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McArdle’s Disease, or Glycogen Storage Disease Type V, is the result of a deficiency in one of the enzymes responsible for the metabolism of glycogen in the body. Individuals with this disease, lack or produce very small concentrations of the myophosphorylase or glycogen phosphorylase enzyme. McArdle’s disease is a metabolic and recessive genetic disease caused by a mutation on the PYGM gene located on chromosome 11q13. This gene is responsible for the synthesis of the myophosphorylase (or glycogen phosphorylase) enzyme. It is the most common form of muscular glycogenesis. We present here the clinical case of a 35 years old woman diagnosed with McArdle’s disease at the age of 21 after a visit to a Neurologist. It was confirmed that the patient had shown symptoms of this disease at least 10 years before definitive diagnosis: intolerance to exercise, asthenia and muscular weakness. In this report we describe the different signs and symptoms of the disease, as well as the tests performed to confirm the diagnosis by muscle biopsy and genetic analysis. McArdle’s disease is classified as a rare disease and often its diagnosis is delayed due to a lack of knowledge about its symptoms and signs. Our intention is to make, with the description of our clinical case, the information about this disease more available to physicians to prevent future misinterpretations and delayed diagnosis. A medical documentary we have created on “McArdle’s Disease” can be seen in YouTube using the following links: https://youtu.be/HAhoZ7jxz7Q (English version) and https://youtu.be/uZopzSHOl20 (Spanish version).

Background: Vascular closure devices are routinely used following femoral artery access to perform percutaneous coronary interventions (PCI). A number of devices are available on the market. We have reported previously on our experience of the Mynx device following diagnostic coronary angiography. Aims: To assess the success and complication rates of the Mynx device used in all-comers in the context of PCI within a single cardiac centre. Methods: Retrospective analysis of data available for patients who underwent PCI via the femoral route and received a Mynx device at a single tertiary centre. Results: The device was used to achieve haemostasis in 113 patients following PCI. In all cases weight-adjusted Heparin as well as dual antiplatelet therapy (Aspirin and Clopidogrel/ Ticagrelor) was administered as per PCI protocol. The device was successfully deployed in 111 cases (98.2%). The were 2 cases of device failure, one due to operator error and the other due to Mynx grip balloon bursting during device deployment. In 15 cases (13.2%; 9 male and 6 female) there were reports of small haematomas (<2cm) or oozing resulting in application of manual pressure or Femstop (St. Jude). A further patient required ultrasound-guided compression of the artery due to a large retroperitoneal bleed resulting from access complications. A larger proportion of the cases with complications were done as PPCI (44% vs 33%). The group with complications had higher systolic BP (140mmHg vs 128mmHg; P<0.05) and MABP (97mmHg vs 75mmHg; P<0.05) as compared with the group without any complications. Conclusion: The Mynx closure device is safe and easy to use in the context of PCI, in both the elective and emergency (PPCI) settings. Complication rates, predominately minor, can be minimised in experienced hands.

Background: An increasing body of evidence indicates that inflammatory activation profoundly impacts the electrophysiological properties of cardiomyocytes. A marker of systemic inflammation such as C-reactive protein(CRP), is associated with all parameters of the Mtabolic syndrome(MetS) and that may result in adverse cardiac events via multiple effects, ultimately resulting in a prolongation of Action Potential duration (APD), and thereby of the QTC (QT corrected) interval on ECG. Objective: We sought to investigate the influence of CRP levels on the prevalence of prolonged QT-dispersion and prolonged Tpeak-Tend –dispersion in the patients with MetS. Methods: We conducted a multicenter observational cross-sectional study. The study population consisted of 200 patients with MetS, stratified in two groups:103 participants (50 females and 53 males) with level of CRP>3mg/l, and 97 participants (47 females and 50 males) with level of CRP<3mg/l), who attended outpatient visits at general cardiology Health Care Clinics during 1 calendar year. For the analysis of the ECG, we performed a manual measurement of the values using a digital caliper with measuring range of 0-150 mm, 0.01 mm resolution, and 0-100 ± 0.02 mm accuracy. QT interval dispersion was obtained by the difference between the maximum and the minimum QT intervals found in the 12-lead electrocardiogram. The Tpeak-Tend interval was obtained from the difference between QT interval and QTpeak interval. Results: Prolonged QTC. dispersion, was found in 51.4% of participants with level of CRP>3mg/l and in 32.9% of with level of CRP<3mg/l, the differences were statistically significant. (p=0.004). The results showed that 51.4% participants with level of CRP>3mg/l had a prolonged Tpeak-Tend interval, and 32.9% of participants with level of CRP<3mg/l had prolonged Tpeak-Tend interval. Difference were statistically significant.( p=0.04). There were significant association of increased levels of CRP and QTC-dispersion (OR = 2.486, 95% CI 1.389-4.446).There were significant association of increased levels of CRP with Tpeak-Tend Dispersion (OR=2.239,95%CI 1.262-3.976). Prolonged QTC max. Interval OR=2.236,%CI 1.246-4.014),Prolonged Tp-Te-interval. (OR=2.367, 95%CI 1.327-4.222), also there were significant association of increased levels of CRP with BMI. (OR=1.154, 95%CI 1.095-1.227) and significant association of increased levels of CRP with presence of uncontrolled glicemia.(OR=1.779, 95%CI 1.014-3.12). Conclusion: We think we proved the hypothesis that patients with MetS and high level of CRP have higher prevalence of QT- dispersion and Tpeak-Tend dispersion than patients with MetS and lower level of CRP. These findings have both epidemiological and clinical relevance, also these findings might lend further insight into potential mechanisms by which MetS is associated with adverse cardiac events.

Socioeconomic barriers appears to be the greatest threat to dental care apart from considering the geographic location of the population. Access to need of care becomes primary consideration and through teleconsultation it is possible to overcome these barriers. As oral cavity being gateway to entry of health problems, dental treatment becomes a pivotal in health care system. Tele medicine and Tele dentistry becomes effective in treatment of health problems, reducing the chances of late stage detection of the abnormalities. It allows us to utilize our time better and screen more patients. This article aims to provide amazing technology of Tele dentistry involving all the dental specialties to reach all the populations of the society.

A male, 4 days old and 20 kg Simmental calf was evaluated for regurgitation and hyper salivation since birth. The mother became pregnant by artificial insemination and the pregnancy was the second of the mother. A membrane closed the pharynx and a diverticulum on dorsal of this membrane was seen during oropharyngeal examination through inspection. Membrane was also viewed by endoscopy under general anaesthesia. Larynx and oesophagus were imaged by bronchoscopy through the back side of the membrane. After these applications, it was decided that soft palate adhered firmly to the root of tongue causing congenital atresia. Surgical treatment of oropharyngeal membrane was carried out under general anaesthesia. Firstly, tracheotomy was performed for to ease breathing and membrane removed by electrocautery application. Intensive fluid accumulation and oedema formation at the incision area were detected by endoscopic examination following operation and the calf had severe dyspnoea two days after operation and died due to respiratory insufficiency. At necropsy, severe inflammatory reaction, laryngeal oedema and intensive salivation at the surgical side was determined. Direct imaging techniques should be used to determine in the closed oropharyngeal lumen. Moreover, nasopharyngoscopy should be considered to image larynx and oesophageal way. Present case is the first report with concern to pharyngeal membrane formation together with direct imaging and surgical procedures. Therefore, it was considered that this case report could be useful for colleagues and literatures.

Background: The prognostic significance of impaired left ventricular (LV) relaxation and increased LV stiffness as precursor of heart failure with preserved ejection fraction and death is still largely unknown in apparently healthy subjects. Methods: We constituted a cohort of 353 patients with normal ejection fraction (>45%) and no significant heart disease, based on a total of 3,575 consecutive left-sided heart catheterizations performed. We measured peak negative first derivative of LV pressure (-dP/dt) and operating chamber stiffness (Κ) using a validated equation. Patients were categorized as having: 1) normal diastolic function, 2) isolated relaxation abnormalities (-dP/dt > 1860mm Hg/sec and K <0.025mm Hg/ml), or 3) predominant stiff heart (K ≥0.025mm Hg/ml). Results: During a follow-up of at least 5 years, the incidence of the primary composite endpoint (death, major arterial event, heart failure, and arrhythmia) was 23.2% (82 patients). Compared to isolated relaxation abnormalities, predominant stiff heart showed stronger prognostic significance for all events (p=0.002), namely heart failure (HR, 2.9; p=0.0499), cardiac death (HR, 5.8; p=0.03), and heart failure and cardiac death combined (HR, 3.7; p=0.003). Conclusion: In this apparently healthy population referred to our center for cardiac catheterization, the prevalence of diastolic dysfunction was very high. Moreover, predominant stiff heart was a better predictor of cardiovascular outcomes than isolated relaxation abnormalities.

Trichosporonosis is a disease caused by Trichosporon spp. which are ubiquitous anamorphic yeast that commonly inhabit the soil. In human they are found in the skin, gastrointestinal tract and respiratory tract. Globally, Trichosporon spp. infection is rare and remains scantily reported in urinary tract infections and disseminated invasive infection amongst immunocompromised and cancer patients with neutropenia. Trichosporon asahii is the most commonly reported species. Virulence factors like proteinases, lipases, and phospholipases may be responsible for disease manifestation. We report a case of recurrent urinary tract infection due to Trichosporon spp. in a 62-year-old immunocompetent diabetic female which remained misdiagnosed for a long period of time. The patient was subsequently treated successfully by oral fluconazole drug.

Radiofrequency ablation is one of the most commonly used therapies for potentially curative small hepatocellular carcinoma. Although radiofrequency is usually a safe procedure, severe and potentially fatal complications can happen. This is a case of a 72 years old woman with cirrhosis secondary to Metabolic Associated Fatty Liver Disease (MAFLD), who presented recurrent hydrothorax after treating hepatocellular carcinoma (HCC) with radiofrequency ablation (RFA), and in which diaphragmatic perforation was subsequently diagnosed. We reviewed the differential diagnosis and management in a pleural effusion after a radiofrequency procedure. Although diaphragmatic perforation is an uncommon complication after RFA procedure, this case aims to help clinicians being aware of non-habitual complications.

Objectives: To describe a patient with facial-onset sensory-motor neuronopathy (FOSMN) that later developed Huntington’s disease (HD). Case report: A 62-year-old woman complained of progressive dysphagia 8 years before referral. At initial evaluation, there was excessive salivation, dysphagia, and sensory-motor trigeminal impairment. Denervation was noted on the upper limbs and the tongue. Blink reflexes were abolished. Genetic study of amyotrophic lateral sclerosis (ALS)-related genes was normal. She was diagnosed with FOSMN syndrome. Her clinical state progressively worsened with corneal anesthesia, severe denutrition, right arm and axial weakness. Seven years after referral, she was unable walk and developed generalized chorea. Abnormal huntingtin gene repeat expansion confirmed the diagnosis of HD. She died 16 years after onset of dysphagia. Conclusion: Cases with both HD and ALS have already been reported but not FOSMN and HD, to our knowledge. Some FOSMN cases have been linked to ALS-related gene mutations and HD phenocopies have been associated with C9ORF72 repeat expansions. Recently, huntingtin repeat expansions were described in the ALS population. Although a chance association cannot be excluded, data from the literature are in favor of a pathogenic relationship between FOSMN and HD in this particular case. We suggest that huntingtin gene be more systematically studied in patients with FOSMN.

Introduction: The world is currently facing the SARS-CoV-2 pandemic with evolving 2nd wave. The COVID-19 patients present most commonly with Severe Acute Respiratory Illness (SARI) in an emergency room with acute onset fever, cough, and breathlessness. However, not all SARI cases as per definition are due to COVID-19 infection, which is well proven in this case series of 113 cases of SARI. This is just the opposite of the other SARI series done in the pre-COVID-19 era. Also, no previous SARI case series data has shown significant association with Diabetes Mellitus, including new-onset diabetes thus figuring out the major Pathophysiological association of COVID-19 with glucose metabolism and has a bearing on the pathogenesis, treatment, and outcome of COVID-19 infection and perpetuity of pandemic of this magnitude. Here we raise concern for the first time about the growing association of an infectious pandemic with the lifestyle disorders which are non-communicable diseases but carry with them the potential of fertile soil for rapidly spreading epidemics.Aim and objective: To find out the etiology, clinical profile, treatment outcome, and mortality rate in different sub-groups of SARI cases in a tertiary care hospital and the incidence of new-onset Diabetes Mellitus in them and to investigate theoretically the hypothesis that maintaining normal glucose metabolism could prevent progression of a mild Flu-like illness (FLI) to a severe form of Severe Acute Respiratory Illness (SARI) and consequent complications such as Cytokine Storm Syndrome and Multi-Organ failure.Design: Retrospective, single-center case series of 113 SARI patients at a tertiary care hospital in Agra India between 1 March- 30 October 2020.Main outcome: The demographics, clinical, pathological, imaging, and treatment outcome data were collected. The SARI cases analyzed were defined as “Severe acute respiratory infections (SARIs) an acute respiratory illness of recent onset (within seven days) manifested by fever (≥38°C), cough and shortness of breath or difficulty in breathing requiring hospitalization and were sub-classified according to the primary etiology producing SARI in them. The findings were compiled and compared. Conclusion: Of the 113 patients of SARI – 32.7 %were associated with Diabetes, with 9.74% new-onset Diabetes and 26 % previously known Diabetes. This was mainly due to SARS-CoV-2 (24 Diabetics out of 52 COVID-19 cases- 46.1 %).The Average hospitalization stay of SARI cases was 10 days with a maximum in SARS-CoV-2 and a minimum stay of 5.22 days in Bacterial Pneumonia and 5.66 days in Koch’s Lungs.The death rate was maximum (4 out of 26) 15.3%. Hospitalized TB/Koch’s Lung patients who presented as SARI and 3.8% in Bacterial Pneumonia, 2.43% in SARS-CoV-2, and <1% in Sepsis.Those SARI cases who were euglycemic at the time of initial presentation recovered early and carried a good prognosis with less mortality as compared to those who were hyperglycemic on presentation. Also, those FLI cases who maintained euglycemia or did not have any other risk factor which predisposes them to stress (Diabetes, Prolonged fasting, Obesity, major organ disorder, Psychological disorder, and Cancer) did not progress to SARI as the endogenous steroid secretion and sympathetic activation did not occur, the intracellular pH levels remained in the alkaline range.10.18% of cases developed new-onset diabetes (a total of 11 cases) out of which 10 were in COVID-19. Thus 19.2% incidence of new-onset diabetes in SARS-CoV-2 and a prevalence of 26.9% in SARS-CoV-2, making total diabetes 46.1% in SARS-CoV-2, and out of all SARI cases, 26 % of patients developed pulmonary fibrosis with consequent long-term complications. In COVID-19 patients, it was seen only in diabetics SARS CoV-2 male patients, thus no death in non-diabetic females in COVID-19 in this case series.