Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome.

Isochromosome involving the long arm of X chromosome is a rare structural rearrangement of the X chromosome, leading to Gonadal dysgenesis. These patients present as phenotypic females with amenorrhea and growth failure. Often other associated features like endocrine abnormalities and skeletal deformities are found. They are chromatin positive cases and are only diagnosed by karyotyping. Hashimoto's thyroiditis is a rare association with isochromosome X.

Recurrent limb weakness as initial presentation of Wilson's disease.

A 28-year-old normotensive euthyroid man presented with recurrent lower motor neuron type of weakness without sensory or autonomic involvement, with preserved reflexes. Systemic examination was significant for mild hepatosplenomegaly. Investigations revealed persistent hypokalemic, hyperchloremic, normal-anion-gap metabolic acidosis with deranged liver functions. Urine pH was 6.0 even after oral ammonium-chloride loading test. Type I renal tubular acidosis was diagnosed. A search for the etiology revealed bilateral Kayser-Fleischer ring, with low serum ceruloplasmin levels and high urinary copper, confirming it to be Wilson's disease.

Study of platelet aggregation in acute coronary syndrome with special reference to metabolic syndrome.

BACKGROUND/CONTEXT: Antiplatelet drug resistance increases the risk of adverse events like stent thrombosis in acute coronary syndrome (ACS). Metabolic syndrome (MS) is a prothrombotic state and presence of MS further increases the risk of antiplatelet drug resistance. AIMS AND OBJECTIVES: We studied platelet aggregation characteristics in patients of ACS for aspirin or clopidogrel resistance. We studied the relation of drug resistance with blood markers like high sensitivity C-reactive protein (hsCRP). We also studied for any relation of drug resistance with presence of MS. MATERIALS AND METHODS: We studied platelet aggregation characteristics by optical aggregometry using platelet-rich plasma (PRP) of patients. Collagen (2 µg/mL) and adenosine diphosphate (ADP; 10 µmol) were used. Greater than 50% aggregation in PRP of patients was taken as an evidence of drug resistance. Suitable blood tests were done including newer risk markers like hsCRP, apolipoprotein B, and fibrinogen. STATISTICAL TEST: Statistical tests included Student's t-test and Kendall's rank correlation coefficient. RESULTS: We had a total of 94 patients of ACS with 47 (50%) having MS. MS patients showed higher blood levels of hsCRP and fibrinogen. Twenty-eight (59.5%) patients with MS showed antiplatelet drug resistance compared to 12 patients without MS. Serum fibrinogen showed strongest correlation with drug resistance. HsCRP levels showed correlation with aspirin resistance (r = 0.53) only in the MS group. DISCUSSION AND CONCLUSION: We found significantly high prevalence of antiplatelet drug resistance. Aspirin and clopidogrel resistance was comparable. MS was a significant risk factor for drug resistance. The prothrombotic and proinflammatory markers showed strong correlation with drug resistance. A larger randomized trial is needed to better characterize this clinical problem.

Suprasellar tuberculoma presenting as sudden onset blindness in a patient of lupus.

Tuberculosis can be an opportunistic infection complicating the course of patients receiving prolonged immunosuppression. In these patients, the tuberculosis can involve the central nervous system and can cause diagnostic difficulty due to atypical features. Often, the diagnosis of central nervous system tuberculosis in resource limited settings is indirect, like imaging. But anti-tubercular drugs, given even on empirical basis can be life saving. A case of a young female systemic lupus erythematosus patient (on prolonged steroids) with intracranial tuberculoma is presented here. She presented with blindness and headache and her computed tomography scan showed a calcified mass in the suprasellar location. However, she responded well to anti-tubercular drugs. The differential diagnoses of such lesions are also discussed.

Late onset hypogonadism in type 2 diabetic and nondiabetic male: a comparative study.

Sexual dysfunction in diabetic men can result from a variety of causes of which late onset hypogonadism is now a recognised entity. The study described here was conducted to determine this entity by comparing diabetic men with age matched controls. A significant number of diabetic men had low levels of testosterone and free testosterone. Among the patients with low testosterone a large percentage had low pituitary gonadotrophic hormones signifying that the disorder was actually hypogonadotrophic hypogonadism. This finding was then correlated with various risk factors present in the diabetic patients and positive correlations were found for many parameters.

Etiological study of Fever of unknown origin in patients admitted to medicine ward of a teaching hospital of eastern India.

BACKGROUND: In a developing country, infectious disease remains the most important cause of fever, but the noncommunicable diseases, like malignancy, are fast becoming important differential diagnoses. An important clinical problem is the cases labeled as fever of unknown origin (FUO), which often evade diagnosis. OBJECTIVE: The present study was undertaken to find the cause of FUO in a tertiary care hospital of eastern India. MATERIALS AND METHODS: This is a prospective study of inpatients, with regard to both clinical signs and investigations. RESULTS: The main diagnosis in the end was tuberculosis, closely followed by hematological malignancy. A substantial number of cases remained undiagnosed despite all investigations. The provisional diagnosis matched with the final in around two thirds of the cases. While for younger patients leukemia was a significant diagnosis, for older ones, extra-pulmonary tuberculosis was a main concern. INTERPRETATION: In India, infectious disease still remains the most important cause of fever. Thus the initial investigations should always include tests for that purpose in a case of FUO. CONCLUSION: Geographic variations and local infection profiles should always be considered when investigating a case of FUO. However, some of the cases always elude diagnosis, although the patients may respond to empirical therapy.

Bacterial contamination of the hands of doctors: a study in the medicine and dermatology wards.

BACKGROUND: Doctors' hands are a common source of bacterial contamination. Often, these organisms are found to be virulent species with multidrug-resistance patterns. These are the sources of nosocomial infections in many patients. AIMS: The present study was undertaken to find out the prevalence of bacterial contamination in the hands of doctors in the Medicine and Dermatology wards of a tertiary care hospital. METHODS: The hands of 44 doctors were swabbed and cultured at entry to ward and at exit. Then, tap water and alcohol swab wash techniques were used and further swabs were done at each step. Thus, each doctor was sampled four-times for the study. The antibiotic-sensitivity pattern of the organisms was determined by the disc-diffusion method. RESULTS: There was a significant contamination of the doctors' hands at entry (59.1%) and at exit (90.9%). Overall, Staphylococcus was the predominant organism (59% at entry and 85% at exit); coagulase-negative ones were more prevalent at entry (32%) and coagulase-positive ones were more prevalent at exit (54%). There was no difference in the hand contamination rates of junior and senior doctors. Also, the contamination rates were similar in the Medicine and Dermatology wards. Among the gram negative organisms, Escherichia coli (4.5%), Pseudomonas (4.5%), Enterococci (13.6%) and Klebsiella (9%) were the main ones isolated. Gram negative organisms were significantly more prevalent at exit (P = 0.009) compared with their numbers at entry. Hand washing techniques reduced the contamination rates significantly, 76% with tap water wash and further 16.5% with alcohol swab. The removal rate for both groups of organisms was similar. Also, coagulase-positive and -negative Staphylococci showed equal rates of removal with hand washing (P = 0.9793). The organisms were found to be resistant to most of the commonly used antibiotics; the beta-lactam group was especially largely resistant both for gram positive and gram negative bacteria. Both cheaper ones like cloxacillin (50-100%) and very costly ones like cefepime (100%) were equally vulnerable to resistance. Even newer antibiotics like linezolid and vancomycin showed a significant resistance to Staphylococcus. In gram negative organisms, drugs like ceftazidime and gentamicin showed 100% resistance. CONCLUSION: This study shows the high level of contamination of doctors' hands. It emphasizes the need for proper hygienic measures in day to day practice in hospitals to reduce the level of nosocomial infections. Also, it shows that most of the commonly used antibiotics will be ineffective in nosocomial infections.

A rare case of Reifenstein's syndrome in two siblings.

The conditions like gynaecomastia and hypospadius are not uncommon. Approximately 40% of normal men have palpable breast tissue. Hypospadius affects in excess of 1 in 300 boys. But the two conditions together occur very rarely and that too in the siblings. Two brothers in the same family of 16 and 14 years of ages reported with the complaints of bilateral gynaecomastia and hypospadius. USG of breasts of both the brothers revealed well developed duct system. LH, FSH, testosterone, oestradiol levels were within normal limits. Hypospadius was corrected by staged procedure. Gynaecomastia was treated by subcutaneous mastectomy. During 3-year follow-up they reported that their social life was restored, which was disturbed earlier.

Post chicken pox neurological sequelae: Three distinct presentations.

Varicella zoster infection is known to cause neurological involvement. The infection is usually self-limiting and resolves without sequelae. We present a series of three cases with neurological presentations following chicken pox infection. The first case is a case of meningitis, cerebellitis and polyradiculopathy, the second is a florid case of acute infective demyelinating polyradiculoneuropathy (Guillian-Barré syndrome) in a middle-aged female and the third case is a young man in whom we diagnosed acute transverse myelitis. All these cases presented with distinct neurological diagnoses and the etiology was established on the basis of history and serological tests confirmatory for chicken pox. The cases responded differently to treatment and the patients were left with minimum disability.

A study on endocrine dysfunction in adult males with liver cirrhosis.

Over a period of two years, 72 adult males with liver cirrhosis of different aetiologies were studied in terms of clinical and biochemical evidence of endocrine dysfunctions related to hypothalamic-pituitary-gonadal axis and the thyroid status, and compared with 40 age-matched control subjects. With more advanced disease, a progressive fall in testosterone, leutinising hormone and triiodothyronine and a rise in oestradiol was observed. Severity of the liver disease determined by Child-Turcotte-Pugh class, rather than aetiology (alcoholic or postviral), was the chief determinant of such dysfunctions. The involvement was both central and peripheral, with only peripheral defects at gonadal level in early state but dysfunctions at both the levels in late stage of cirrhosis.

A study on clinical and biochemical profile of low body weight type 2 diabetes mellitus.

Low body weight type2 diabetes mellitus (T2DM) is a distinct entity in T2DM having different clinical presentation, morbidity and mortality patterns as well as biochemical profile when compared with classical T2 DM. This study was aimed at comparing three subtypes of T2 DM-overweight (BMI>25), normal weight (BMI>18.5 but <25) and low body weight or lean type2 DM (BM1<18.5). Seventy-five cases of T2 DM (25-lean, 25-normal weight and 25-overweight) were selected. The present study revealed that normal C-peptide level with basal hyperglycaemia is an important characteristic of lean T2 DM. Lower prevalence of hypercholesterolaemia and higher level of triglycerides were found in low body weight T2 DM.Lower prevalence of macrovascular and higher prevalence of microvascular complications are also noted.

Rheumatological manifestations of leprosy.

Rheumatological manifestations are common in leprosy. A study was conducted among 30 patients to observe the prevalence and spectrum of rheumatological manifestations in leprosy. Seventeen patients were referred from leprosy clinic from 287 consecutive leprosy cases and 13 patients presented de novo at the rheumatology clinic and later diagnosed to have leprosy. In the first group, the most common manifestation was small and large joints polyarthritis resembling rheumatoid arthritis found in 64.7% cases and in the second group tenosynovitis (38.5%) was the commonest. Rheumatoid factor was positive in 60% cases.

Headache in a case of Rhupus syndrome.

We report a case of Rhupus with secondary anti-phospholipid syndrome who presented with headache and papilloedema due to cerebral venous thrombosis. We propose that an increased awareness about the condition and meticulous investigation of headaches in lupus can avert catastrophic outcomes.

A study on nephropathy in type 2 diabetes mellitus: histology and its correlation with clinical and biochemical parameters.

To document clinical, serum and urinary parameters in patients with features of diabetic nephropathy in type 2 diabetes mellitus and to correlate light microscopical findings of the renal biopsy specimen with the clinical, serum and urinary parameters, a study was conducted among 30 patients of type 2 diabetes mellitus with features of nephropathy attended Medical College, Kolkata with special emphasis given on neurological and fundoscopic examination. The patients were investigated with fasting and postprandial venous plasma glucose, glycosylated haemoglobin (HbA1c), serum urea, creatinine, sodium, potassium, 24-hour urinary protein/micro-albumin and lipid profile. Percutaneous renal biopsy was performed after taking informed consent from the patients and sent for histopathological examination. Obtained data were tabulated and analysed. Among 30 patients (male-16; female-14; proteinuric-23, micro-albuminuric-6) diabetic nephropathy was detected in 28 patients (diffuse-15, nodular-9, 4 had focal segmental glomerulosclerosis) and 2 had normal renal biopsy. Retinopathy was detected in 16 patients; 12 had autonomic neuropathy and 3 had peripheral neuropathy.