Biofilm-producing and specific antibiotic resistance genes in Pseudomonas aeruginosa isolated from patients admitted to a tertiary care hospital, Bangladesh.

Objectives: Biofilms are responsible for persistent infections and antimicrobial resistance. Pseudomonas aeruginosa was investigated with its ability to form biofilm by detecting genes responsible for producing biofilms and biofilm-specific antimicrobial resistance. The association between antibiotic resistance and biofilm was investigated. Methods: This cross-sectional study was conducted from July 2017 to December 2018. A total of 446 samples (infected burn, surgical wounds, and endotracheal aspirate) were collected from admitted patients of Dhaka Medical College and Hospital, Bangladesh. P. aeruginosa was isolated and identified by biochemical tests and polymerase chain reaction. Biofilm production by tissue culture plate method followed by detection of biofilm-producing genes (pqsA, pslA, pslD, pslH, pelA, lasR) and biofilm-specific antibiotic resistance genes (ndvB, PA1874, PA1876, PA1877) by polymerase chain reaction were done. Antibiotic susceptibility test was carried out by disk diffusion method; for colistin agar dilution method of minimal inhibitory concentration was followed. Results: Among 232 (52.02%) positive strains of P. aeruginosa, 24 (10.30%) produced biofilms in tissue culture plate. Among biofilm-producing genes, pqsA was the highest (79.17%). pslA and pelA were 70.83%, pslD 45.83%, pslH and lasR 37.5%. Among biofilm-specific antibiotic resistance genes, 16.67% were ndvB, and 8.33% were PA1874 and PA1877. Biofilm-forming strains were significantly resistant to colistin. Conclusions: Detection of biofilm-forming genes may be a good tool for the evaluation of biofilm production, which will help in prompt and better management of chronic or device-associated infections.

Efficacy and safety profile of Glucagon-Like Peptide-1 Receptor Agonist in obese Type-2 diabetes patients from a private institution in Karachi.

Objective: To assess the effectiveness of GLP-1RAs in managing obese T2DM patients. Methods: This prospective cohort analysis was conducted at Medicell Institute of Diabetes, Karachi, Pakistan; from July 2019 to July 2021. A total of 97 obese individuals >16 years of age with T2DM and IGT were initially enrolled, and 81 patients who showed up for the follow-up were prescribed one of the three GLP-1RAs available in Pakistan. Results: Out of 81 patients who showed up for the follow-up visit, 43 had received Liraglutide, 25 were taking Dulaglutide, and 13 had been prescribed IDegLira supplemented with oral hypoglycemic medications ± insulin. The mean age of the enrolled patients was 49.21(12.44) years, and there was female predominance (55.6%). Overall, there was a significant weight and BMI reduction among the patients treated with either of the GLP-1RAs (P<.01). Furthermore, significant glycemic control was observed in all three groups after the treatment. The Dulaglutide group demonstrated a more significant reduction of HbA1c compared to Liraglutide group, which showed more pronounced weight and BMI reduction. Nevertheless, this class of medications was well-tolerated, with nausea being the most often reported side effect. Conclusion: GLP-1RAs showed favorable weight and HbA1c reduction among patients of all three treatment groups.

Clinical Spectrum and Causes of Delayed Puberty Among Patients Presenting to the Endocrine Clinic at Jinnah Postgraduate Medical Centre.

INTRODUCTION: It has been observed that 5% of adolescents are affected by pubertal timing disorders. However, there is limited data about this in Pakistan. This cross-sectional study aimed to observe the patterns and causes of delayed puberty (DP) among patients presenting at the endocrine clinic of a tertiary care hospital in Karachi. METHODS: This observational study was conducted at the endocrine clinic of Jinnah Postgraduate Medical Centre (JPMC) Unit II from 2007 to 2015. A detailed history was obtained from patients presenting with DP. We noted the available demographic data, main complaints, and family history of DP. Physical examinations were performed and the data recorded. Tanner staging was used to assess pubertal development. Relevant laboratory and imaging investigations were performed; data analysis was performed using SPSS 17 (IBM Corp., Armonk, NY). RESULTS: A total of 2670 patients were registered in the endocrine clinic during the study period, of which 171 presented with DP; 119 were males and 52 were females. There was a wide variation in age at presentation ranging from 10 to 32 years. The majority of patients presented with short stature - 69 (57.98%) males and 19 (36.53%) females. Small testes were present in 28 patients (23.52%); 19 (15.96%) males presented with absent secondary sexual characteristics and infertility was present in three (2.54%) males, primary amenorrhea was observed in 25 (48.07%), both primary amenorrhea and short stature were the presenting symptoms of five (9.61%), and failure of breast development was seen in three (5.76%) females. Constitutional delayed growth and puberty (CDGP) was diagnosed in 42 patients (24.6%). The definitive diagnosis of idiopathic hypogonadotropic hypogonadism (IHH) was made in 18 (10.5%) patients. In another 18 (10.5%) patients, we could not differentiate between CDGP and IHH. Functional hypogonadotropic hypogonadism (FHH) due to non-endocrine illness was present in 16 patients (9.4%). The cause of DP was hypogonadotropic hypogonadism in 33 (19.3%) patients whereas 44 patients presenting with DP could not be classified due to incomplete data. CONCLUSION: This study showed that CDGP was the most common cause of DP in our patients with the most common presentation being short stature in males and amenorrhea in females. It is essential to differentiate CDGP in children from a small fraction of the pathological and treatable causes of DP.

Delayed diagnosis in Vitamin D-dependent rickets type II results in severe skeletal deformities.

Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. We aimed to investigate two cases of VDDR-II. Case 1 was of a 14-year old male, presenting with bone pains, bowing of legs, multiple bone deformities, and fractures since childhood. On examination, Chvostek's and Trousseau's signs were positive, and there was no alopecia. Case 2 was a 15-year old male who presented with pain in both legs since childhood and difficulty in walking lately. Upon investigation, it was found that bowing of legs, and Chvostek's and Trousseau's signs were positive. Both cases had severe hypocalcaemia, normal/low phosphate levels, and high alkaline phosphatase (ALP). Vitamin D levels were normal, and 1,25(OH) Vitamin D was very high, thus confirming the diagnosis of VDDR II. Both of the cases highlight a tremendous delay in diagnosis, resulting in severe adverse skeletal outcomes.

COVID-19 Infection-Related Coagulopathy and Acute Limb Ischemia in a Patient With Pre-existing Diabetes.

The pandemic of coronavirus 19 (COVID-19) infection has presented the clinicians with a challenge never experienced on this scale before. Although coagulopathy has been well described in association with COVID-19 infection, some recommendations have emerged so far for the potential role of empiric anticoagulation in specific situations. We describe a case of a middle-aged male with extensive acute lower limb ischemia and severe pneumonia related to COVID-19 infection. This case highlights the role of prophylactic anticoagulation in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection regardless of co-morbidities and D- dimer levels.

Clinical Variants, Characteristics, and Outcomes Among COVID-19 Patients: A Case Series Analysis at a Tertiary Care Hospital in Karachi, Pakistan.

Introduction Coronavirus disease 2019 (COVID-19) has become a global threat to public health. The current study investigates alterations in the biological estimates concerning the severity, recovery, mortality, and assessment of treatment-based outcomes. Methods A case series of 165 COVID-19 patients admitted to OMI Institute (a tertiary care hospital) was conducted between May and August 2020. The data regarding demographic characteristics, comorbid conditions, radiographic abnormalities, biological estimations, symptoms, treatment, disease progression, complications, and outcomes were recorded using a structured questionnaire. Laboratory estimations included complete blood count (CBC), renal and electrolyte profile, liver function tests (LFTs), hematological indices, and inflammatory markers. Chest X-ray, electrocardiogram (ECG), and a high-resolution computed tomography (HRCT) scan were also performed, and data were extracted from the medical records. Analysis was done using the Statistical Package for the Social Sciences (SPSS) version 22.0. Results Out of the 165 COVID-19 patients, 79.4% recovered and were successfully discharged, while 20.6% of inpatient died. The patients' mean age was 56.03 ± 15.96 years, with a male majority (55.1%). The most common comorbid conditions were diabetes and hypertension; fever and dry cough were among the most frequently reported symptoms. The chest imaging findings among the severe/critical COVID-19 patients showed extensive bilateral patchy opacities. The median laboratory investigations, including neutrophil-to-lymphocyte ratio (NLR) (14.83), C-reactive protein (CRP) (7.4 mg/dl), lactate dehydrogenase (LDH) (786 IU/L), ferritin (1401.15 mcg/ml), and mean oxygen saturation (88.25%), were significantly altered among cases with increased disease severity and those who expired (p<0.05). The proportion of acute respiratory distress syndrome (ARDS) and sepsis development was significantly high among severe/critical COVID-19 patients (p<0.05). Treatment with tocilizumab, remdesivir, doxycycline, ivermectin, enoxaparin sodium, and steroids was deemed to be potentially effective treatment options in terms of reducing COVID-19 severity and chances of recovery. Furthermore, age (OR 1.05; p=0.047), presence of comorbidity (OR 8.471; p=0.004), high NLR, LDH (final outcome) (OR 1.361 and 1.018; p<0.05), and CRP levels (midpoint) (OR 1.631; p=0.05) were identified as the strong predictors of death among COVID-19 patients. Conclusion The study identified several alterations in the clinical profile of the COVID-19 patients concerning severity during the hospital stay, affecting prognosis. Clinically, tocilizumab, remdesivir, doxycycline, ivermectin, enoxaparin sodium, and steroids were identified as potential therapeutic options for COVID-19 due to their ability to alter disease-associated severity and recovery rate.

Burden of Elevated Body Mass Index and Its Association With Non-Communicable Diseases in Patients Presenting to an Endocrinology Clinic.

Introduction In the last 45 years, the worldwide rate of obesity has risen by nearly three-folds. Globally, 650 million adults are obese and more than 1.9 billion are overweight. The estimated prevalence of overweight and obesity in Pakistan was found to be 25% and obesity prevalence alone was 10.3% using the Asian-specific body mass index (BMI) criteria. According to the World Health Organization, overweight and obesity increase the risk of non-communicable diseases (NCDs). Objectives The aim of this retrospective observational study was to determine the burden of elevated BMI and its association with NCDs among patients presenting to a private endocrinology clinic. Study design This was a retrospective observational study conducted at Medicell Institute of Diabetes, Endocrinology & Metabolism (MIDEM), and the study duration was two years. Methodology Medical records of the patients who visited MIDEM from January 2017 to December 2018 were reviewed. Patients' data such as age (in years), gender, height (in cm), and weight (in kg), along with primary complaints and comorbidities were retrieved. BMI was calculated by dividing weight (in kg) by squared height (in m2). Results A total of 613 records were reviewed. The median age and BMI were 38 years (IQR=18 - 80 years) and 28.8 kg/m2 (IQR=24.6-33.05 kg/m2),respectively. Out of 613 patients, 10.6% were overweight and 72.6% were obese. Among 510 (83.2%) patients with elevated BMI (≥23 kg/m2), the most frequent associated NCDs were dyslipidemia (39.2%), diabetes (32.5%), hypertension (31.4%), thyroid disorders (28.6%), metabolic syndrome (25%), subfertility (14.9%), impaired glucose tolerance (12.7%) and autoimmune diseases (6.9%). On age- and gender-adjusted logistic regression model, the risk of dyslipidemia, hypertension, and diabetes was significantly higher in overweight and obese patients. Conclusion This study demonstrated a high prevalence of obesity in patients visiting the endocrinology clinic. Obesity was identified as an independent risk factor for dyslipidemia, hypertension, and diabetes. Future studies are suggested to determine the burden of obesity and establish its association with NCDs in the general population.

SGLT 2 Inhibitors; glycemic control, weight loss and safety profile in patients with type 2 Diabetes, at Medicell Institute (MIDEM).

BACKGROUND & OBJECTIVE: Sodium glucose co-transporter-2 inhibitors (SGLT 2 inhibitors) are newer anti-hyperglycemic agents, which improve glycemic control independent of insulin secretion with a low risk of hypoglycemia. This study aimed to assess the efficacy of SGLT 2 inhibitors in terms of glycemic control, weight reduction and safety profile in our patients with type 2 Diabetes (T2D). METHODS: This is a prospective analysis, conducted at Medicell Institute of Diabetes, Endocrinology and Metabolism (MIDEM), Karachi Pakistan from January 2018 till July 2019. This study included patients with T2D, who were treated with SGLT 2 inhibitors add on to other anti-diabetic drugs. Baseline and follow up weight, BMI, HbA1c, blood pressure (BP), renal function and side effect profile was assessed. RESULTS: Study included 140 patients; 53% females and 47% males. Mean Age was 55.6 ± 10.3 years. Mean weight at baseline was 81.5 ±16.5 kg. Mean duration of T2D was 10.3 ± 6.75 years, with a mean HbA1C at baseline of 9.1± 1.6%. Follow up data was available for 90 patients at the time of analysis. HbA1C improved considerably to 7.6± 0.9 (P< 0.001) and mean weight reduced to 78.5 ± 16.1 kg (P≤0.003), at first follow-up. CONCLUSION: Dapagliflozin and Empagliflozin offer a significant additional drug in improving glycemic control with the additional advantage of weight loss and hypoglycemia safety.

A Case of Multisystem Inflammatory Syndrome Post-COVID-19 Infection in an Adult.

The spectrum of coronavirus disease (COVID-19) continues to evolve as time passes. In the majority of those infected with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), apart from fever, respiratory and gastrointestinal symptoms, involvement of other systems, such as cardiovascular and neurological system has also been described. Association between COVID-19 disease and a multisystem inflammatory syndrome in children and adolescents (MIS-C) has now been well defined. However, in adults there are sparse case reports describing a similar phenomenon. This has led to the development of preliminary case definitions for this disease, based on clinical manifestations, laboratory criteria and recent SARS-CoV-2 exposure or infection. Here we present a case of 28-year-old man who presented with high grade fever, rash, gastrointestinal and neurological symptoms fulfilling the criteria of MIS-C with a prior COVID-19 infection and recovered completely in 6 weeks after receiving steroid therapy.

A CASE OF COMPLEX HEMATOMA FORMATION AFTER INSTITUTION OF ACS PROTOCOL IN A PATIENT WITH UNTREATED PRIMARY HYPOPARATHYROIDISM.

OBJECTIVE: We report an unusual case of untreated hypoparathyroidism in which the patient presented with a prolonged QT interval and unusual bleeding after the institution of acute coronary syndrome (ACS) protocol. METHODS: A 53-year-old female presented with sudden pain and diffuse tightness in the abdomen/limbs and profuse sweating for a few hours. Patient was admitted under cardiology services and ACS protocol was instituted. RESULTS: After 2 days of admission, she developed severe abdominal pain and distention, which was due to large hematomas in the bladder wall, rectus sheath, and retroperitoneal area. These hematomas were surgically drained, but the abdominal wall could not be closed due to gut distention and stiffness of the abdominal wall; a Bogota bag was applied for closure. The patient was shifted to oral calcium after 12 days of intravenous calcium and vitamin D replacement. Abdominal closure was done several weeks later as a follow-up procedure. CONCLUSION: This case illustrates the neglected areas of the impact of hypoparathyroidism; the effects of chronic hypocalcemia on the cardiovascular system and coagulation cascade.

Clinical and immunological profile in patients with mixed connective tissue disease.

Mixed connective tissue disease (MCTD) is a rare disease and presents with varied overlapping symptoms of different connective tissue disorders. Many patients evolve into other connective tissue disorders with the passage of time. The case series included 20 patients with the diagnosis of MCTD, registered at the Rheumatology Clinic of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from June 2010 to May 2015. Of these, 16 (80.0%) were female and 4 (20.0%) patients were male. The mean age was 30.5±8.9 years and the mean duration of illness was 4.5±2 years. Commonest presenting symptom was arthralgia in 17 (85%) patients. All the patients had positive ANA and anti-RNP antibodies. Over the disease course of 6 years, 2 (10%) patients evolved into Systemic lupus erythematosus (SLE); One each (5%) into Sjogren's syndrome, Scleroderma and Rheumatoid arthritis.

An elusive case of dermatomyositis.

Dermatomyositis is an inflammatory myopathy of unknown aetiology. Muscle involvement may eventuate later in the disease course in some patients, who may present with typical skin disease without clinical signs of myopathy and are referred to as dermatomyositis sine myositis. A 48 year old female presented with intermittent urticaria like rashes, diffuse asymmetrical swelling of proximal limbs, pain in small joints of hands and fatiguability. Initial laboratory work-up for immune markers was negative. Three years later, she developed heliotrope rash and periorbital oedema with no evidence of muscle weakness and was labeled as amyopathic dermatomyositis. After an interval of one year, she developed profound weakness and significantly raised CPK. Patient responded well to steroids and Azathioprine and improved both clinically and biochemically.

Subclinical Hypothyroidism: Frequency, clinical presentations and treatment indications.

OBJECTIVE: To determine the frequency, modes of clinical presentation and indications for replacement therapy in a cohort of patients with subclinical hypothyroidism (SCH). METHODS: This study was conducted at the Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre from September 2007 - October 2015. This was a retrospective chart analysis of prospectively collected data in whichthe medical records of 4448 patients who had presented to the Endocrine Clinic from 2007 to 2015 were reviewed. A total of 2760 (62.05%) patients were diagnosed withthyroid disorders, whereas 260 (9.42%) patients had SCH. The SCH patients were between the age of 12 to 70 years; TSH was> 4mIU/l with normal levels of FT3 and FT4. Patients were enrolled using a predesigned structured proforma. Those having chronic systemic diseases were excluded from this study. SPSS 13 was used to evaluate the data. RESULTS: Femalepatients comprised93.8% (244 patients) of those with SCH, whereas only 6.2% (16 patients) were male. Common presenting symptoms were, lethargy in 146 patients (56.2%); increase in weight in 102 patients (39.2%) and menstrual irregularities in 90 patients (34.6%). TSH level of < 10mIU/l (4 - 10) was seen in 177 patients (68.1%) and 83 patients (31.9%) had TSH ≥ 10mU/l. Thyroxine was given to 183 (70.4%) of these patients. Common treatment indications were TSH of ≥ 10, which was seen in 83 patients (31.9%), subfertility in 32 patients (12.3%), troublesome symptoms suggestive of hypothyroidism in 31 patients (11.9%) and high titers of antibodies in 23 patients (8.8%). CONCLUSION: SCH is frequently seen in our population, with most patients complaining of lethargy. The most common treatment indications were a TSH ≥ 10mIU/l, whereas troublesome symptoms of hypothyroidism and subfertility were the common treatment indications in patients who had a TSH of < 10mIU/l.

Delayed conventional DMARDs therapy is effective in Rheumatoid Arthritis.

OBJECTIVE: To determine the disease severity in patients with Rheumatoid Arthritis (RA), at baseline and the impact of treatment on disease activity (DA) after six months of disease modifying anti-rheumatic drugs (DMARDs) therapy. METHODS: This prospective study was conducted at the 'Rheumatology Clinic' of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from June 2014 to May 2015. A total of 111 patients, with the diagnosis of RA were included in the study. DA was calculated using 'Clinical Disease Activity Index' (CDAI) score at base line and after 6 months of DMARDs therapy. RESULTS: Out of 111 patients, 17 (15.3%) were male and 94 (84.7%) were female. The mean age was 37.16±11.3 years and the mean duration of joint pain was 3.8±3.6 years (median 2.5 years). The mean Hb was 10.8±1.8 g/dl and the mean ESR at baseline was 59.63±30.9 mm/Hr. The mean initial CDAI score was 18.14±11.69; reflecting moderate to severe disease. Of all of these patients, 32 (28.8%) patients received monotherapy, 78 (70.3%) received dual therapy and 1(0.9%) was given triple DMARDs therapy. The mean ESR was 39.5±27.31 mm/Hr, and mean CDAI was 7.36±7.8 with a median of 6.0 after 6 months of DMARDs treatment. CONCLUSION: The CDAI score and the ESR reflected that majority of our patients were in remission or at low disease activity, after six months of DMARDs therapy. It is possible to control DA in RA, in a low resource health care facility with conventional DMARDs therapy. Continuity of treatment was ensured through motivation, regular supply of drugs and regular follow-up.

Lipid abnormalities in patients with Rheumatoid Arthritis.

OBJECTIVE: To determine the frequency of dyslipidemia in patients with Rheumatoid Arthritis. METHODS: This is a prospective, cross-sectional, observational study, conducted at the 'Rheumatology Clinic' of Jinnah Postgraduate Medical Center (JPMC), Karachi, from November 2013 to May 2014. A total of 200 patients of Rheumatoid Arthritis (RA), diagnosed according to the ACR/EULAR criteria 2010, were included in the study. Laboratory investigations including creatinine, ALT, CBC, TSH and fasting lipid profile (LDL, HDL, and Total cholesterol) were done for all patients. RESULTS: Out of 200 patients, 23 (11.5%) were male and 177 (88.5%) were female. The mean age was 36.31±10.46 years and the mean duration of disease was 3.82±3.03 years. A total of 107 (53.5%) patients had dyslipidemia, and the commonest abnormality was a low HDL, seen in 83 (41.5 %) patients. CONCLUSION: Dyslipidemia was frequently observed in Rheumatoid Arthritis. This may be considered as a secondary impact of chronic inflammatory state, seen in RA. Lipid abnormalities should be sought at regular intervals, and corrective actions taken to mitigate increased cardiovascular disease risk.

The many guises of primary hyperparathyroidism: An unchanged scenario.

OBJECTIVE: To study the causes, characteristics and outcome of treatment of patients with primary hyperparathyroidism. METHODS: This retrospective cohort analysis was conducted at the Jinnah Postgraduate Medical Centre, Karachi, and comprised data of patients with primary hyperparathyroidism between 2004 and 2014. .SPSS 17 was used for data analysis. RESULTS: Of the 25 patients,1(4%)was male and 24(96%) were female. The overall mean age was 41.72±15.9 years, with a mean duration of symptoms of 4.1±3.3 years. The mean pre-operative parathyroid hormone level was 879.48±793.51 pg/ml. Skeletal manifestations were reported in 17(68%) patients, whereas 4(16%) patients had renal stone disease. Besides, 2(8.0%) patients presented with severe abdominal pain, 1(4%) had asymptomatic hypercalcaemia and 1(4%) patient presented with headache and was diagnosed as parathyroid adenoma in the context of multiple endocrine neoplasia type 2A. All patients underwent parathyroidectomy. A solitary adenoma was reported in 23(92%) patients, carcinoma in 1(4%) and an adenoma with hyperplasia of other glands in 1(4%) patient. CONCLUSIONS: A high index of suspicion is required for early diagnosis of primary hyperparathyroidism.

Ankylosing Spondylitis: A rheumatology clinic experience.

OBJECTIVE: To determine the frequency, demographics, laboratory and radiological features in patients with Ankylosing Spondylitis. METHODS: This is a retrospective analysis of prospectively collected data of patients with a diagnosis of Ankylosing Spondylitis (AS), based on Modified New York criteria. The study was conducted at the Rheumatology Clinic of Jinnah Postgraduate Medical Centre (JPMC), from February 2004 to February 2014. Detailed history, examination and laboratory investigations were recorded in a pre-designed structured proforma. The frequency, demographic characteristics, extra-articular features and associated co-morbidities were studied. RESULTS: A total of 603 patients were registered in our Rheumatology Clinic during this period, with a definitive diagnosis of inflammatory rheumatological disorders. Out of these, Ankylosing Spondylitis (AS) was diagnosed in 32 (5.3%) patients. 24 were male and 8 patients were female. The commonest affected age group was between 21-40 years. Majority of the patients belonged to Pathan ethnicity. CONCLUSION: The demographic features of AS are same as reported in earlier studies from other parts of the world. The predominance of AS in specific ethnic groups is a fact that needs to be studied. Larger studies are required for clarifying the triggers of this disease. It often leads to severe disability, hence an early diagnosis and prompt treatment is required for better disease control and quality of life.

Burden of rheumatological disorders in a tertiary care hospital.

OBJECTIVE: T To evaluate the frequency of different rheumatological disorders in patients visiting a tertiary care centre. METHODS: The retrospective analysis was conducted at the Rheumatology Clinic of Jinnah Postgraduate Medical Centre, Karachi, and comprised prospectively collected data of patients with different musculoskeletal disorders from February 2004 to February 2014. Detailed history, examination and laboratory investigations were recorded in a pre-designed structured proforma. The frequency, demographic characteristics and associated co-morbidities were studied. SPSS 17 was used for statistical analysis. RESULTS: Of the 603 patients whose data was analysed, 460(76.3%) were women and 143(23.7%) were men. Overall mean age of the patients was 35.2±12 years. Rheumatoid arthritis was diagnosed in 458(76%) patients, systemic lupus erythematosus in 42(7%) ankylosing spondylitis in 32(5.3%), mixed connective tissue disease in 22(3.6%) and scleroderma in 12(2%) patients. CONCLUSIONS: Rheumatological disorders constitute a major disease burden in a relatively young population of patients. RA was the most common disorder seen in our clinic, as seen elsewhere also, followed by SLE, AS, MCTD, etc.

Clinical Spectrum of Disorders of Sexual Differentiation.

OBJECTIVE: To describe the mode of presentation and causes of the disorders of sexual differentiation in patients presenting in the Endocrine Clinic. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: The Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from July 2012 to July 2014. METHODOLOGY: Patients with phenotypic, psychosocial gender confusion or absence of gender appropriate secondary sexual maturation were enrolled in the study. Patients having chronic systemic disease, as cause of delayed puberty, were excluded from the study. SPSS 13 was used to evaluate the data. RESULTS: A total of 48 patients registered in the study with mean age of 19.9 ±8 years. Female gender was assigned to 28 (58.3%) of which 8 (28.57%) had genital ambiguity. Male gender was assigned to 20 (41.66%) patients at the time of birth and 7 (35%) of them had ambiguous genitalia. Karyotyping could be done in 36 (75%) patients of which 17 (47.2%) were females and 19 (52.7%) were males. Karyotypic gender of the 19 (48.57%) male patients was 46 XX, 46 XY and 47 XXY; in 4 (21.05%), 5 (26.3%) and 10 (52.6%) patients, respectively with 9 Klinfelter syndrome. Karyotypic gender of 17 (47.42%) female patients were 46 XX, 46 XY and 45 X0; in 5 (29.4%), 3 (17.64%) and 9 (52.9%) patients, respectively. CONCLUSION: Disorder of sexual development constitutes a small but difficult area of endocrinology with disastrous consequences, especially if assigned wrong sex at birth. Mode of presentation of these cases was diverse ranging from delayed puberty, to gender confusion, to pregnancy in a male. Eventually in an adult patient assignment or reassignment of gender identity was primarily the patient's prerogative.

Fluorosis... causing paraplegia... mutilating life...

Fluorosis is thought to be rare in Pakistan but endemic in various parts of the world, especially in India and China. In Pakistan only a few cases have been reported from Thar, Sibbi and Manga Mandi, with probability of fluorosis on MRI findings, supported by high drinking waterfluoride content. Neurological manifestations of skeletal fluorosis may vary from radiculo-myelopathy to neuropathy. A case of 26 years old female from Thul, Sindh, who presented with paraplegia, is reported here. Her MRI showed extensive classical degenerative changes throughout the spine, consistent with fluorosis, leading to cord compression at multiple levels. No such case with confirmed fluorosis has been previously reported from Pakistan.