diagnosis

Background: The main cause of adrenal insufficiency (AI) in paediatric patients is prolonged treatment with corticosteroids. Determination of plasma cortisol (PC) during ACTH test is the most used adrenal function indicator in clinical practice. However, determination of salivary cortisol (SC), a simple test especially useful in children in order to avoid invasive procedures, can be used as an alternative technique for the diagnosis of adrenal disease. Methods: A two-year prospective study (January 2014-January 2016) in paediatric patients (2-18 years of age) treated with corticosteroids for more than fifteen days, who were investigated for suspected AI. Low-dose ACTH test was used to determine adrenal function and samples for SC and PC were obtained simultaneously in basal situation and during the test (at 30, 60 and 90 minutes). Results: 230 samples (118 PC-112 SC) of 30 studies belonging to 20 patients (4 males), mean age 10.93 years ± 3.69 SD. Pearson’s correlation coefficient showed a positive correlation between PC and SC (r = 0.618, p < 0.001). All the studies with some determination of PC higher than 18 μg/dL (n = 8) had a SC peak higher than 0.61 μg/dL with a specificity of 66.67% and a sensitivity of 93.94% (ROC analysis). Conclusion: Measurement of SC is a less invasive, easier and quicker test than PC to measure plasma free cortisol levels. In our study, a SC peak in low-dose ACTH test higher than 0.61 μg/dL was able to discriminate patients without AI, and proved to be a useful tool in the initial evaluation of children with suspected AI.Introduction The activation of the hypothalamic-pituitary-adrenal axis in response to critical illness and the resulting release of cortisol from the adrenal cortex are essential to stress adaptation. Adrenal insufficiency (AI) is described as the inability of adrenal glands to produce an appropriate hormonal secretion not only under stress but also in basal situation. Therefore, a low baseline plasma cortisol (PC) (< 5 μg/dL) and a poor cortisol response to stimulation with exogenous adrenocorticotropic hormone (peak < 18 μg/dL) are some of the defining criteria of this condition [1,2]. It is well known that the main cause of AI in paediatric patients is prolonged treatment with exogenous corticosteroids, which is an iatrogenic cause derived from the increasing complexity of paediatric pathologies and the increased use of prolonged high-dose corticosteroid therapy. In clinical practice, adrenal function is usually assessed by the total PC (determined by low-dose ACTH test). This implies the placement of a vascular access which is often a traumatic experience for children. PC includes protein-bound fraction and serum-free cortisol. The latter constitutes the biologically active form of the hormone and is responsible for glucocorticoid activity on peripheral organs. Most of the circulating cortisol is bound to plasma proteins (over 90%), such as cortisol-binding globulin (CBG) and albumin, whereas only about 10% of circulating cortisol is free. Hence, the measurement of plasma-free cortisol level has been considered more representative of adrenal function (especially in critically ill adults and children) [1,2], because some conditions, such as hypoalbuminaemia or hypoproteinaemia (frequent in critically ill patients or in patients with cirrhosis), may lead to misinterpretation of adrenal function with an overestimation of the prevalence of AI. But the direct measurement of free PC is a laboratory-dependent and time-consuming procedure that is not available for routine use. Salivary cortisol (SC) is one of the several indirect methods available to determine free PC [3], as SC levels accurately reflect free PC [4] even in cases of hypoalbuminaemia or CBG abnormality [1,5]. For this reason, in the last years, this technique (SC) has been introduced as a non-invasive tool in the diagnosis of adrenal cortical disorders, for its simplicity and applicability in the paediatric population. However, few studies to date have evaluated the usefulness of SC as a diagnostic method in children with AI. No interactions between exogenous corticoids and SC have been described [6]. The aim of the present study was to assess the usefulness of determining salivary cortisol levels as a diagnostic tool in children with suspected secondary iatrogenic AI. 

Background: Tetanus continues to threaten the survival of children in spite of it being a vaccine preventable disease. The objective of this study was to determine the prevalence of post-neonatal tetanus, review the vaccination of affected children, complications encountered and the outcome among affected children in a tertiary health institution in southwestern Nigeria. Methods: The study was a retrospective study. Case notes of children outside neonatal life admitted to the Paediatric ward with clinical diagnosis of tetanus between January 2012 and October 2018 were retrieved and evaluated to identify socio-demographic and clinical characteristics. A review of the immunization history and cards was done where the immunization cards were available. Results: 21children with post-neonatal tetanus were admitted over a period of six years (November 2012 to October 2018) with a prevalence of 0.3%. The M:F was 3.2:1. The mean age in years was 10.14 ±3.44 while the age range of the subjects was 4 to 16years. None of the patients had booster doses of tetanus toxoid (TT) outside the infancy period. Nine (42.9%) subjects had no previous TT vaccination, 2 (9.5%) had 3 doses of TT vaccine in infancy but developed tetanus at age ≥9 years, 1(4.8%) subject had a dose of TT while the remaining 9subjects had no proof of previous TT vaccination. The percentage mortality was 19% (4 out of 21). All the patients that died had no prior record of TT vaccination. Complications identified included laryngeal spasm and autonomic dysfunction. Conclusion: Post-neonatal tetanus is still common in our locality because booster doses of Tetanus Toxoid are not part of the national immunization schedule. Complete dose of tetanus toxoid vaccination during infancy and booster doses at school entry is necessary and should be part of school health programme to forestall post-neonatal tetanus

Background: Popliteal artery aneurysms (PAAs) are rare, but the diagnosis should not be missed because of the limb and life threatening complications. The purpose of this study was to reach a consensus about the management of PAA based on our own experience and the available literature. Materials and Methods: This is a retrospective analysis of all patients who underwent an open surgical PAA repair at our institution from January 2015 to December 2016. Demographic data, risk factors, clinical presentation, aneurysm characteristics, type of repair and results were reviewed. Results include patency and major complications. Results: Seven patients underwent an open surgical PAA repair (six men). Median age was 72 years. A posterior approach (PA) was chosen four times and a medial approach (MA) was chosen three times. We performed six resections with interposition of a graft and only one ligation with a bypass. Five patients recovered well, did not develop any complication and did not need a second intervention to guarantee patency. These patients underwent a resection of the aneurysm and interposition of a graft (four via a PA and one via a MA). One patient treated by resection and interposition of a Dacron graft via a MA underwent an above-the-knee amputation at postoperative day 14. This patient had a preoperatively dysfunctional leg since several months with no patent outflow vessels. Our patient treated by ligation and bypass via a MA, developed an acute ischemia four months postoperatively because of an extreme flexion of the knee during several hours while watching TV. After unsuccessful trombolysis, he underwent a femorotibial bypass and a partial forefoot amputation. No long-term results are yet available. Conclusions: In our opinion, open surgical repair of PAAs by resection of the aneurysm and interposition of a venous graft has the best results. Depending on the relation to the knee joint and thus the accessibility of the aneurysm, a posterior approach is preferred. We are not convinced of endovascular techniques in the treatment of popliteal artery aneurysms

Pulmonary embolism (PE) is an age-related disorder which is potentially fatal, but frequently misdiagnosed. However, the true prevalence of pulmonary embolism is unknown. Inaccurate estimates of PE prevalence might, in part, be attributable to underrecognition of atypical presentations of this disorder. If true prevalence is unknown, the positive predictive values of both typical and atypical symptoms and signs of PE will be unreliable. The negative predictive value of those parameters will, likewise, be unreliable. The aim of this review is to make clinicians more aware of atypical manifestations of PE, thereby increasing the likelihood of correct diagnosis and, hence, ascertainment of the true prevalence of PE. The range of atypical manifestations was explored by a literature search, using MEDLINE from 1946 to February 2019, and EMBASE, from 1947 to February 2019, and Pubmed, from February 2014 to February 2019, using the search terms atypical, uncommon, unusual, pulmonary embolism, lung embolism, pulmonary thromboembolism. This search revealed atypical presenting features such as non pleuritic retrosternal pain, abdominal pain, atypical breathing patterns, pulmonary oedema, Dressler’s syndrome, atypical radiographic manifestations, atypical electrocardiographic features, manifestations associated with oxygen saturation of 95% or more, coexistence of acute myocardial infarction and pulmonary embolism, coexistence of thoracic aortic dissection and pulmonary embolism, neurological manifestations other than stroke, paradoxical embolism, acute venous thrombosis of atypical location, and pulmonary embolism with normal D-dimer levels.

Pure Erythroid Leukemia (PEL) is an aggressive and exceedingly rare form of acute leukemia. In the 2008 WHO classification PEL was one of the subtypes of acute erythroid leukemia the other subtype being erythroleukemia (erythroid/ myeloid). In the 2016 WHO classification update, erythroleukemia was merged into myelodysplastic syndrome and PEL now is the only type of acute erythroid leukemia.106 cases of acute myeloid leukemia were diagnosed in 28 months in children’s hospital Lahore and PEL constituted 0.94%. Diagnosis of PEL is made by the bone marrow morphology showing predominant Immature erythroid precursors (proerythroblastic or undifferentiated), Periodic Acid- Schiff staining and immunophenotyping. In PEL no specific genetic mutations have been described but complex karyotypes and TP53 mutations are frequently noted. Future collaborative studies to identify the molecular defects will contribute to the development of targeted therapies that might improve the prognosis.

The broad spectrum of heterozygous versus homozygous JAK2V617F mutated MPN consists ET, ET with early features of PV (prodromal PV), classical PV, masked PV, advanced PV and post-PV myelofibrosis. Combined use of bone marrow histology and increased erythrocyte counts above 5.8x1012/L can replace increased red cell mass at time of presentation as the pathognomonic clue for the correct diagnosis of hetero/homozygous or homozygous mutated PV. Erythrocyte counts are in the normal range below 5.8x1012/L in heterozygous JAK2V617F mutated ET and prodromal PV but above 5.8x1012/L in heterozygous-homozygous or homozygous mutated PV. The bone marrow cellularity and morphology in pre-fibrotic ET, prodromal PV and PV carrying the JAK2V617F mutation are overlapping showing clustered increase of large mature pleomorphic megakaryocytes (M) with no increase of cellularity (<60%) in ET. The bone marrow is hypercellular (60%-80%) due to increased erythropoiesis megakaryopoiesis (EM) in prodromal and classical PV and trilinear hypercellular (80%-100% due increased megakaryopoiesis, erythropoiesis and granulopoiesis (EMG) in advanced PV and masked PV. Bone marrow cellularity ranging from normal (<60%) in ET to increased erythropoiesis (EM) in prodromal PV to hypercellular (80-100%) in advanced PV and masked PV largely depends on increasing JAK2V617F mutation load from low to high on top of other biological MPN variables like constitutional symptoms during long-term follow-up. MPL515 mutated ET is featured by an increase of clustered small and giant megakaryocytes with hyper-lobulated staghorn-like nuclei in a normal cellular bone marrow. The third entity of pronounced JAK2/MPL wild type ET associated with primary megakaryocytic granulocytic myeloproliferation (PMGM) without PV features proved to be caused by calreticulin (CALR) mutation. CALR mutated thrombocythemia is characterized by dual proliferation of megakaryocytic and granulocytic bone marrow proliferation of dense clustered large to giant immature dysmorphic megakaryocytes with bulky (bulbous) hyperchromatic nuclei, which are not seen in MPL515-mutated Thrombocythemia and JAK2V617F-Thrombocythemia, prodromal PV and classical PV. 

Primary myelofibrosis (PMF) is a distinct clinicopathological myeloproliferatve disease (MPD) not preceded by any other MPD ET, PV, CML,... Combined use of bone marrow histology and increased erythrocyte counts above 5.8x1012/L can replace increased red cell mass at time of presentation as the pathognomonic clue for the correct diagnosis of hetero/homozygous or homozygous mutated PV. Erythrocyte counts are in the normal range below 5.8x1012/L in heterozygous JAK2V617F mutated ET and prodromal PV but above 5.8x1012/L in heterozygous-homozygous or homozygous mutated PV. The bone marrow cellularity and morphology in pre-fibrotic ET, prodromal PV and PV carrying the JAK2V617F mutation are overlapping showing clustered increase of large mature pleomorphic megakaryocytes (M) with no increase of cellularity (<60%) in ET. The bone marrow is hypercellular (60%-80%) due to increased erythropoiesis megakaryopoiesis (EM) in prodromal and classical PV and trilinear hypercellular (80%-100% due increased megakaryopoiesis, erythropoiesis and granulopoiesis (EMG) in advanced PV and masked PV. Bone marrow cellularity ranging from normal (<60%) in ET to increased erythropoiesis (EM) in prodromal PV to hypercellular (80-100%) in advanced PV and masked PV largely depends on increasing JAK2V617F mutation load from low to high on top of other biological MPN variables like constitutional symptoms during long-term follow-up. MPL515 mutated ET is featured by an increase of clustered small and giant megakaryocytes with hyper-lobulated staghorn-like nuclei in a normal cellular bone marrow. The third entity of pronounced JAK2/MPL wild type ET associated with primary megakaryocytic granulocytic myeloproliferation (PMGM) without PV features proved to be caused by calreticulin (CALR) mutation. CALR mutated thrombocythemia is characterized by dual proliferation of megakaryocytic and granulocytic bone marrow proliferation of dense clustered large to giant immature dysmorphic megakaryocytes with bulky (bulbous) hyperchromatic nuclei, which are not seen in MPL515-mutated Thrombocythemia and JAK2V617F-Thrombocythemia, prodromal PV and classical PV. 

The present article extends the PVSG-WHO criteria into a simplified set of Rotterdam and European Clinical, Molecular and Pathological (RCP/ECMP) criteria to diagnose and classify the myeloproliferative neoplasms (MPNs). The crude WHO criteria still miss the masked and early stages of ET and PV. Bone marrow histology has a near to 100% sensitivity and specificity to distinguish thrombocythemia in BCR/ABL positive CML and ET, and the myelodysplastic syndromes in RARS-T and 5q-minus syndrome from BCR/ABL negative thrombocythemias in myeloproliferative disorders (MPD). The presence of JAK2V617F mutation with increased erythrocytes above 6x1012/L and hematocrit (>0.51 males and >0.48 females) is diagnostic for PV obviating the need of red cell mass measurement. About half of WHO defined ET and PMF and 95% of PV patients are JAK2V617F positive. The combination of molecular marker screening JAK2V617F, JAK2 exon 12, MPL515 and CALR mutations and bone marrow pathology is 100% sensitive and specific for the diagnosis of latent, early and classical ECMP defined MPNs. The translation of WHO defined ET, PV and PMF into ECMP criteria have include the platelet count above 350 x109/l, mutation screening and bone marrow histology as inclusion criteria for thrombocythemia in various MPNs. According to ECMP criteria, ET comprises three distinct phenotypes of true ET, ET with features of early (“forme fruste” PV), and ET with a hypercellular erythrocythemic, megakaryocytic granulocytic myeloproliferation (EMGM or masked PV). The ECMP criteria clearly differentiate early erythrocythemic, prodromal and classical PV from congenital polycythemia and idiopathic or secondary erythrocytosis. The burden of JAK2V617F mutation in heterozygous ET and in homozygous PV is of major clinical and prognostic significance. JAK2 wild type MPL515 mutated normocellular ET and MF lack PV features in blood and bone marrow. JAK2/MPL wild type hypercellular ET associated with primary megakaryocytic granulocytic myeloproliferation (PMGM) is the third distinct CALR mutated MPN. The translation of WHO into ECMP criteria for the classification of MPNs have a major impact on prognosis assessment and best choice for first line non-leukemogenic approach to postpone potential leukemogenic myelopsuppressive agents as long as possible in ET, PV and PMGM patients.

Background: A Grey 12-year-old Arabian endurance horse gelding was referred to the SHS Veterinary Center for anorexia, mild colic of 5 days duration, and melena of 1 day duration. The owner reported recurring colic, 12 episodes of mild colic in the previous year. Methods: On admission, vital signs were within normal limits and body condition score was estimated to be 3/9. Results: Packed cell volume (PCV) was 28% [reference range (RR): 31% to 47%] and plasma total protein was 58 g/L (RR: 60 to 80 g/L). Hematochezia was observed. Abdominal ultrasound examination detected no abnormalities. Over the next 12 h, the horse experienced hematochezia and several mild episodes of colic and death. A necropsy was performed. A mass arising from the right dorsal ascending colon near the base of the cecum and extending transmurally from the colonic mucosa into the mesocolon was a 8 cm × 5 cm × 8 cm firm, homogenous, tan mass. The portion of the mass that extended into the colonic lumen was pedunculated, with an ulcerated surface. The adjacent segments of colon were markedly reddened and edematous. Histologically, the mass was comprised of large interweaving sheets of small, spindle cells with ill-defined cell borders embedded in abundant myxomatous matrix. Tumor cells contained scant eosinophilic cytoplasm and oval to elongate nuclei with finely stippled chromatin and inconspicuous nucleoli. Mitotic figures were rare (1/10) high power fields. Tumor infiltrated between the muscularis interna and the muscularis externa at the myenteric plexi. Conclusion: Gross and histologic appearance, were consistent with a diagnosis of gastrointestinal stromal tumor.

Objective: To investigate the occurrence of depressive and anxiety disorders in patients remitted for endovascular treatment of renal artery stenosis (RAS), and whether symptoms of depression and anxiety can be reduced after the treatment of RAS with percutaneous transluminal renal angioplasty (PTRA).Methods Patients: Selected for renal angiography with pressure measurement in the renal arteries due to suspected RAS were invited to participate in the study. 37 patients agreed to answer a questionnaire. Eighteen patients also agreed to a clinical psychiatric examination including the International Neuropsychiatric Interview (M.I.N.I. 6.0) to be diagnosed according to the DSM-IV. Results: Twenty-one of the 37 patients completing the questionnaire were found to have a pressure gradient of ≥ 10 mmHg at angiography, indicating significant stenosis. Ten of the 18 examined patients met the criteria for current DSM-IV anxiety diagnosis and two patients had a current depression. Three of the 18 examined patients had previously made a suicide attempt. Conclusion: The results of this study suggest that patients with suspected RAS have a high psychiatric comorbidity, as 56% of the patients undergoing psychiatric examination met the DSM-IV criteria for a current anxiety disorder.

Background: Dipylidium caninum, a zoonotic cyclophyllidean tapeworm, mainly infects dogs, cats, and occasionally humans as well. Here, we present D. caninum infection in a domestic cat. A cat of about one year of age with a history of intermittent diarrhea and shedding stool containing whitish cooked rice like soft particles. Methods: The case was identified by thorough clinical, coprological, and parasitological examinations, and treated accordingly.Results: During the physical examination, the cat was found to be infested with flea, and coprological investigation revealed the presence of gravid segments of cestodes. By preparing a permanent slide, we conducted a microscopic examination, and the cestode was confirmed as D. caninum. The cat was treated with albendazole and levamisole, which were ineffective; additionally, levamisole showed toxicity. Then, we administered niclosamide which completely cured the animal. On re-examination after a week, feces were found negative for eggs/gravid segments of any cestode. Conclusion: Niclosamide was found effective against dipylidiasis and can be treated similar infections in pets.

Background: Many institutional factors predispose University students to mental health issues, including depression. However, with no central database for depression in Uganda, literature on depression and associated institutional factors among undergraduate students is scarce. This study examined the prevalence of and institutional factors associated with depression among undergraduate students at Gulu University.Methods: This was a cross-sectional survey among 452 undergraduate students at Gulu University in the academic year 2018/2019 in February and March 2019. A stratified simple random sampling was used to identify the participants. A self-administered questionnaire was used to collect data. Descriptive statistics, including mean and frequency, were used. We conducted a bivariate analysis to determine the association between variables employing Pearson’s chi-square test or Fischer’s exact test. We conducted a multivariate analysis with factors that had significant P-values of less than 0.05.Results: The average age of the respondents was 22.4 (SD - 2.4), more than half (53.1%) were male and 38.50% were in the second year. The results show that 31.19% reported depression. After controlling for age and sex, the results showed that there was a statistically significant correlation between depression and faculty (aOR - 1.15), year of study (aOR - 0.77), happiness with the course (aOR - 0-0.49), satisfaction with academic performance (aOR - 0.45), and satisfaction with academic quality (aOR - 0.61). The results indicated that the predictors of depression among undergraduate students were faculty, year of study, satisfaction with academic performance, and satisfaction with academic quality. Conclusion: A substantial proportion of Gulu University undergraduate students reported high levels of depression. The results, therefore, showed that depression in undergraduate students is an identifiable disorder that needs diagnosis, prevention, and treatment. Faculty, year of study, satisfaction with academic performance, satisfaction with academic quality were predictors of depression. Thus there is an urgent need for counseling, psychoeducation, and preventive mental health services as an essential part of the university setup.

Periodontal suturing beyond the surgical elements it provides precedes the selection of the type of suture versus the fact that it is manipulated with periodontal soft tissue. This fact is the basic element in the selection of the type of suture indicated for use and the way of suturing, which in the periodontal surgeon with experience is performed instinctively without thinking.The article is of the review type, bringing a summary of the published data about the suturing method needed for the periodontal application.Conclusion: The type of suture indicated as a primary indication has a clinical case that is indicated based on clinical diagnosis, but the selection of suture type depending on the material or needle is performed based on the clinical area conditioned by minimal manipulation space and the possibility of laceration of periodontal tissue.

The prostate gland, found only in men, is an extremely important organ of the reproductive system, but it is not taken care of adequately, leading to prostate inflammation and benign hypertrophy or even cancer. Benign prostate enlargement compresses urine flow through the urethra, leading to uncomfortable urinary symptoms. Hyperplasia increases the risk of bladder stones, urinary tract infections, and kidney problems. In India prevalence of Benign Prostrate Hyperplasia (BPH) is around 50% of men by the age of 60 years. Studies suggest that benign prostatic hyperplasia is a result of the disproportion between oestrogen & testosterone. A higher proportion of oestrogen within the prostate boosts the growth of prostate cells. The management of BPH is streamlined in recent times and the majority are on medical treatment.Prostate cancers are one of the cancers showing a significant increase in incidence along with mouth and kidney and lung cancers among the male population. With an estimated population of 1400 million and about 98 million males over 50 years of age in mid-2022 and the average life expectancy increasing 68.4 years, has a bearing on the changing incidence and pattern of prostate cancer in the current decade in India. Based on the five population-based cancer registries in 2009-10, the age-adjusted annual incidence rates per lakh population of prostate cancers were highest in Delhi (10.2) followed by Bengaluru (8.7), Mumbai (7.3), Chennai (7) and Bhopal (6.1). Cancer can co-exist with BPH. Prostate cancer management is still in the development stage with a 5-year life expectancy of around 64%.The prostate is the second leading site of cancer among males in large Indian cities like Delhi, Kolkata, Pune, and Thiruvananthapuram, and the third leading site of cancer in cities like Bangalore and Mumbai. Despite the limitations of diagnosis, the annual cancer incidence rate ranges from 5.0-9.1 per 100,000/year, as compared to the rates in the United States and other developed countries of 110 &180 for whites and blacks respectively.This article is a review of Prostate health in India based on a personal observation of around 183 cases by the author in the last 10 years.Materials & methods: This is an observational study report of three cohorts of men across the country. The sample was of people encountering the author. The sample included i) 69 septuagenarians plus ii) 30 senior citizens aged 60 - 70 years and iii) 84 men in 40 – 60 - year age groups over the last decade. The data source was sharing annual check-up reports or consultation report in person for seeking 2nd opinion. A minimum of 2 consultations, first when diagnosed and the recent between July 2021 to June 2022.

Through the development of new analysis technologies, many issues regarding the approach to tumoral diseases have been elucidated. With analytical assays developed in the last years, various omics technologies have evolved in such a manner that the characteristics of tumor cells and products can be evaluated (assessed) in the bloodstream of cancer patients at different times. Ovarian Cancer (OC) is one of the most difficult to diagnose umors, with low survival rates due to the high heterogeneity of these diseases that are distinct in terms of etiology and molecular characteristics, but which simply share an anatomical appearance. Recent findings have indicated that several types of ovarian cancer classified into different histotypes are in fact derived from non-ovarian issues and share few molecular similarities. Within this context, ovarian cancer screening and diagnosis can be made through the evaluation of circulating tumor cells in peripheral blood using liquid biopsy technologies. Advances in the study of various molecules analyzed by liquid biopsy have shown that elucidation of intratumoural and intertumoural heterogeneity and spatial and temporal tumor evolution could be traced by serial blood tests rather than by histopathological analyses of tissue samples from a primary tumor. Therefore, evaluation of some molecules such as circulating tumor cells (CTC), circulating tumor DNA (ctDNA), circulating cell-free RNA (non-coding and mRNA, extracellular vesicles), tumor-educated platelets or different miRNAs using liquid biopsy could lead to improvement of patient management.

Cancer is a major public health issue and the main cause of death worldwide. Despite improvements in diagnostic techniques and treatment methods, cancer still seriously affects the quality of life of patients, which cause serious social and economic burdens. Therefore, there is an urgent need to identify potential biomarkers to improve diagnosis, treatment, and prognosis of cancer. BTG2 is a cell proliferation suppressor gene that serves as a tumor suppressor gene in the occurrence and development of various tumors. Many studies have shown that BTG2 can serve as a prognostic marker in various tumors. So, fully tap the potentials of BTG2 as a tumor prognostic marker will bring more possibilities to provide a new method or new diagnostic and therapeutic tool for treating cancer.

Background: Myxedema is an extreme manifestation seen in patients with untreated hypothyroidism. It is a lethal endocrine emergency, which arises when a precipitating cause overwhelms the compensatory mechanisms of the hypothyroid state.Objectives: This case report aims to present a case of myxedema coma secondary to cretinism. It also aims to discuss how hypothyroidism leads to hypoventilation and eventually respiratory failure, as well as to discuss the epidemiology, pathophysiology, clinical manifestation, diagnosis, and management of a child with myxedema coma.Case presentation: This is a case of a 7-year-old female, diagnosed with congenital hypothyroidism at 5 months of age, but eventually was lost to follow-up. She came back after 7 years presenting with difficulty of breathing. She was seen hypothermic, obtunded, and in severe respiratory distress. She was severely stunted and underweight with coarse facial features. Initial laboratory work-up showed elevated Thyroid Stimulating Hormone (TSH) as well as decreased tri-iodothyronine (FT3) and thyroxine (FT4). She was immediately started on levothyroxine, with noted resolution of the edema and improvement in sensorium. There was also noted improvement in the patient’s ventilation and was sent home on Continuous Positive Airway Pressure (CPAP) while asleep.Conclusion: This case highlights the importance of having a high index of suspicion of its clinical manifestations, which could lead to earlier intervention thereby preventing further complications. A multidimensional approach is essential in managing this case, as various organ systems are involved in this condition.

The vast majority of urological complications occur at the ureterovesical junction and usually occur early after transplantation. The aim of this study is to enhance the quality of medical care provided to patients who undergo kidney transplantation. Cystography was conducted on renal transplant recipients utilizing computed tomography. The utilization of changes in the patient’s position and reconstructed images of the bladder can serve as a diagnostic tool to assess the normal functioning of the urinary tract system subsequent to kidney transplantation. To ensure adequate filling of the bladder and ureter, it is necessary to introduce varying amounts of contrast medium through the urinary catheter into these structures. This diagnostic procedure aims to verify the existence of stenosis or leakage occurring at the vesicoureteral junction. The evaluation and diagnosis of urinary tract problems subsequent to kidney transplantation can be effectively conducted. Furthermore, it has the potential to mitigate the adverse effects and alleviate the strain on the renal system resulting from the administration of contrast agents in computed tomography urography. CT-guided cystography can enhance the medical quality and comfort of Kidney transplantation patients.

Introduction: Thalassemia is an inherited blood disorder of haemoglobin (Hb) synthesis, which affects different regions around the world. India has the largest number of children with beta-thalassemia major in the world, particularly in the tribal population. Heterozygous conditions are milder and even go unreported than the condition of homozygous where regular blood transfusion is required.Case report: This report focuses on a case of major beta-thalassemia in a child, whose parents are beta thalassemia minor to intermediate conditions, and who was treated by blood transfusion once a month. However, Thalassemia may be cured by allogeneic hematopoietic stem cell transplantation, although not everyone is a good candidate. Genetic counselling, prenatal diagnosis, and selective termination of affected fetuses are effective ways to control thalassemia.Discussion and conclusion: The paper reports a unique case of Thalassemia in rural India. The blood disorder while commonly presented in a juvenile whose parents were Thalassemia positive resulted in the termination of a fetus diagnosed with it. It archives the story of the parents who are now in the process of planning future offspring while mitigating disease risk. The case leads the way for effective management and containment of hereditary genetic disorders through carrier detection while planning alliances and offspring.

Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA.