Limb Girdle Muscular Dystrophy with Cardiac Conduction Block

Introduction: Limb-girdle muscular dystrophy refers to disorders that cause wasting and weakness of the muscles around the shoulders and hips with autosomal pattern of inheritance. Most common features are muscle weakness and atrophy, myoglobinuria, myotonia, elevated serum kinase, and cardiomyopathy in about 20% cases.Case Report: We report a sporadic case in an 18 year old male patient, who presented with complaints of difficulty in walking on toes, squatting, climbing stairs and breathlessness on exertion since 6 months. Examination revealed weakness of shoulder girdle and hip muscles bilaterally with achilles tendon contractures. Investigations revealed creatine kinase of 1870IU/L, normal blood counts, ESR and CRP. Thyroid profile was normal. MRI spine was normal. Nerve conduction study was normal. Electromyography showed short duration, low-amplitude motor unit potentials, increased proportion of polyphasic potentials, and early recruitment with a full interference pattern. ECG showed incomplete left bundle branch block. Echocardiography showed generalized hypokinesia with ejection fraction of 40%. Quadriceps muscle biopsy confirmed muscular dystrophy.Conclusion: Cardiac conduction abnormalities are rarely reported in cases of limb girdle muscular dystrophy. Automated LGMD Diagnostic Assistant (ALDA) suggests patient has medium probability and concordance of LGMD subtypes LGMD2G (36.90) and LGMD2I (23.92). Genetic study confirmed LGMD2G

Acute Pancreatitis and Diabetes Mellitus Caused by Dengue

In this article, an aramid of 4,4′-(1,3-phenylenedioxy)dianiline and terephthaloyl chloride was prepared. Afterwards, Nylon 6/6 and aramid were used to prepare sol-gel coated and non-coated blend fibers reinforced with nanodiamond (ND). In this way, four types of fibers were fabricated i.e. aramid/Nylon 6/6 fibers (Ar/N66) and aramid/Nylon 6/6/nanodiamond fibers (Ar/N66//ND) and sol-gel coated s-Ar/N66 and s-Ar/N66//ND fibers. The fibers were fabricated via Brabender single screw extruder at 200 °C. The Ar/N66 and Ar/N66//ND fibers were coated by means of simple dip-coating technique. Fourier transform infrared spectroscopy was used for structural characterization. Scanning electron microscopic images of non-coated and sol-gel coated fibers were scanned for morphological comparison. Glass transition temperature of the sol gel s-Ar/N66 fibers increased up to 232 °C, while that of s-Ar/N66//ND was enhanced to 240 °C relative to neat fibers. Moreover, the sol-gel coated s-Ar/N66//ND (8.08%) fibers had higher water absorbing tendency than non-coated Ar/N66//ND (7.66 %)

Hypofibrinogenemia Presenting as Intracranial Hemorrhage

Introduction: Factor I deficiency or fibrinogen deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the blood coagulation cascade. They are classified into afibrinogenemia, hypofibrinogenemia and dysfibrinogenemia. Afibrinogenemia is defined as a lack of fibrinogen in the blood, i.e. 20 mg/dl of plasma with a frequency between 0.5 and 2 per million. Hypofibrinogenemia is partial deficiency of fibrinogen with levels of 20–80 mg/dl of plasma. Estimated frequency varies from 0.5 to 3 per million. Case Report: We report regarding a 46 year old female patient, who presented with complaints of severe headache and right sided weakness. Examination revealed right Hemiplegia with BP of 144/90 mm Hg. Investigations revealed Creatine Kinase: 470IU/L, normal Blood counts, ESR and CRP. Thyroid profile was normal. Fibrinogen levels were 17.9mg/dl and repeat test after 1 week showed 24.6mg/dl. ECG showed incomplete left bundle branch block. Echocardiography was normal. Conclusion: Hypofibrinogenemia rarely manifests as intracranial hemorrhage but, commonly presents with oral, mucosal and gastro intestinal tract bleeding. Patients admitted with stroke should be evaluated for fibrinogen deficiency and more emphasis to be laid in case of intracranial hemorrhage and previous history of bleeding

HBA1C Levels, Lipid Profile and Thyroid Profile in Patients Admitted with Severe Hypoglycemia in Type 2 Diabetes Mellitus

Objective: We studied the association between HbA1c level, Lipid profile and Thyroid profile in patients admitted with hypoglycemia in type 2 diabetes mellitus. Materials and methods: Patients admitted with severe hypoglycemia (50mg/dl) are included in this observational study from 4 hospitals from January 2013 till January 2015. HBA1C, Lipid profile and Thyroid profile recorded during admission are the points of interest in this study. Demographic and clinical variables were recorded to evaluate the relative risk (RR) of severe hypoglycemia across HbA1c levels. We also studied comorbidities associated with DM. Results: Among 1200 patients enrolled, mean age was 58.6±11.7 years. 83% of patients were above 50 years of age of which 50% were in 50-59 years age group. Mean Glycated hemoglobin was 8.3±2.09. Patients admitted with hypoglycemia constitute 118(9.83%), 64(5.33%), 200 (16.6%), 624(52%) and 194(16.16%) in HbA1c categories 6, 6–6.9, 7–7.9, 8–8.9, and 9% which is statistically significant (P value0.01). Abnormal lipid profile was found in 96.5 %( 1158) of the study population and abnormal Thyroid profile in 11.6%. Conclusions: Hypoglycemia can occur at any level of glycated Hemoglobin but high risk is found with HBA1c of 6% and 8%. Elderly population should not be subjected for stricter control of blood sugars which can do more harm than good. Patients with mean duration of diabetes more than 10 years are at higher risk of recurrent hypoglycemia

Autoimmune thyroiditis associated with neuromyelitis optica (NMO)

Neuromyelitis optica (NMO or Devic’s syndrome) is a rare relapsing demyelinating disease of the central nervous system (CNS) that mainly affects the spinal cord and optic nerves and shares many clinical and radiological features with multiple sclerosis. The association of NMO with other autoimmune diseases was reported, but very few reports described association with autoimmune thyroid disease. Early differentiation between NMO and multiple sclerosis is very important as the natural course and treatment regimens differ significantly. We report a case of a 50-year-old woman who was admitted initially with vomiting, hiccups and paraesthesias but was not diagnosed with NMO and presented with a severe progression of the disease. The patient was also diagnosed to have autoimmune thyroiditis with lymphocytic infiltration of the thyroid which progressed from hyperthyroidism to hypothyroidism. NMO diagnosis was established with seropositivity for NMO-IgG and MRI showing longitudinally extensive spinal cord lesions (3 or more spinal segments). In spite of treatment, the response was poor due to lack of early diagnosis and aggressive immunosuppressant therapy

Refractory myasthenia gravis – clinical profile, comorbidities and response to rituximab

Introduction: Myasthenia gravis (MG) is an antibody mediated autoimmune neuromuscular disorder characterized by fatigable muscle weakness. A proportion of myasthenia gravis patients are classified as refractory due to non responsiveness to conventional treatment. This retrospective study was done to evaluate clinical profile, epidemiological, laboratory, and features of patients with MG and mode of management using rituximab and complications.Methods: Data of myasthenia gravis patients admitted or presented to outpatient department (previous medical records) with MG between January 2008 and January 2016 were included. A total of 512 patients fulfilled the clinical and diagnostic criteria of myasthenia gravis of which 76 patients met the diagnostic certainty for refractory myasthenia gravis and were evaluated. Results: Out of 76 refractory MG patients, 53 (69.73%) patients fulfilled all the three defined criteria. The median age of onset of the refractory MG group was 36 years with a range of 27–53 years. In our study 25 patients (32.89%) belonged to the age group of 21–30 years. Anti-MuSK antibodies were positive in 8 non-refractory MG patients (2.06%) and 36 refractory MG patients (47.36%). Mean HbA was found to be 8.6±2.33. The dose of administered prednisone decreased by a mean of 59.7% (=3.3x10) to 94.6% (=2.2x10) after the third cycle of rituximab treatment.Conclusion: The refractory MG patients are most commonly female with an early age of onset, anti-MuSK antibodies, and thymomas. Refractory MG patients have higher prevalence and poor control (HbA >8%) of diabetes mellitus and dyslipidemia probably due to increased steroid usage. Rituximab is very efficient in treatment of refractory MG with adverse effects being low

Guillain-Barré syndrome: clinical profile and management

Introduction: Guillain-Barré syndrome (GBS) is a fulminant polyradiculoneuropathy that is acute, frequently severe and autoimmune in nature. Etiology of GBS is incompletely understood, prognosis is usually good with early detection and prompt treatment. This retrospective study was done to evaluate clinical profile, epidemiological, laboratory, and electrodiagnostic features of patients with GBS and mode of management, complications and prognostic factors.Methods: Data of 1,166 patients admitted with GBS or presented to outpatient department (previous medical records) with GBS between January 2003 and January 2014 were analyzed. Results: No difference in genders noted. Around 35% of patients are above 50 years of age. Poor control of diabetes with mean HbA of 8.1 ± 2.11 is found on analysis. Seasonal occurrence in GBS is prominent in winter 484 (41.50%) and mechanically ventilated were 449 (38.50%) patients. 48 (4.11%) deaths were attributed to GBS. Neurological analysis revealed cranial nerve involvement in 407 (34.90%) patients, facial palsy in 401 (34.39%) and ataxia in 88 (7.54%) patients. Most patients in plasma exchange group belonged to the lower socio-economic status. Mean cerebrospinal fluid (CSF) protein levels was (n=962) 113.8 ± 11.8 mg/dl. Conduction block determined indirectly by absent H-reflex was noted in 891 (90.64%) patients. No difference in complications and outcome is found in treatment regimens of intravenous immunoglobulin (IVIG) and plasma exchange.Conclusion: Seasonal occurrence predominantly in winter is noted. Peak flow test may be a predictor of assessing requirement of mechanical ventilation and prognosis. Conduction block is the major abnormality noted in electrophysiological studies and proximal nerve segment assessing with Erb’s point stimulation has high predictive value. IVIG treatment is more expensive but is associated with less duration of hospital stay