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Purpose of the Study: Reversible proximal tubular dysfunction associated with distal renal tubular acidosis (dRTA) mimics type 3 RTA, a condition classically associated with features of both proximal RTA (pRTA) and dRTA. Proximal tubulopathy has been reported in children with primary dRTA, but the data in adults are lacking. Study Design: In this hospital record-based retrospective study, data from 66 consecutive cases of RTA, between January 2016 to December 2018, were retrieved and analyzed. Results: Mean age of the study population was 25.3 years (range: 3 months to 73 years). Six (9.1%) of them had pRTA, 58 (87.9%) had dRTA, 1 (1.5%) had type 3 RTA, and the remaining 1 (1.5%) had type 4 RTA. Ten patients (17.2%) with dRTA and 3 patients of pRTA (50%) had underlying secondary etiologies. Data on proximal tubular dysfunction were available for 30 patients with dRTA, of whom 1 had isolated dRTA, and the rest 29 patients had accompanying completely reversible proximal tubular dysfunction. Among the 10 cases of secondary dRTA, 6 were not evaluated for proximal tubular dysfunction. Of the remaining 4, 3 had reversible form of proximal tubular abnormality. Fifty-two patients with dRTA came from a population, indigenous to the “Rarh” region of India. Conclusions: Proximal tubular dysfunction often accompanies dRTA; 75% of the children with primary dRTA, at least 29% of adults with primary dRTA, and at least 30% of adults with secondary dRTA manifest such completely reversible form of proximal tubulopathy. “Rarh' region of India probably is a hotspot for endemic dRTA.

After a period of rapidly declining U.S. COVID-19 incidence during January-March 2021, increases occurred in several jurisdictions (1,2) despite the rapid rollout of a large-scale vaccination program. This increase coincided with the spread of more transmissible variants of SARS-CoV-2, the virus that causes COVID-19, including B.1.1.7 (1,3) and relaxation of COVID-19 prevention strategies such as those for businesses, large-scale gatherings, and educational activities. To provide long-term projections of potential trends in COVID-19 cases, hospitalizations, and deaths, COVID-19 Scenario Modeling Hub teams used a multiple-model approach comprising six models to assess the potential course of COVID-19 in the United States across four scenarios with different vaccination coverage rates and effectiveness estimates and strength and implementation of nonpharmaceutical interventions (NPIs) (public health policies, such as physical distancing and masking) over a 6-month period (April-September 2021) using data available through March 27, 2021 (4). Among the four scenarios, an accelerated decline in NPI adherence (which encapsulates NPI mandates and population behavior) was shown to undermine vaccination-related gains over the subsequent 2-3 months and, in combination with increased transmissibility of new variants, could lead to surges in cases, hospitalizations, and deaths. A sharp decline in cases was projected by July 2021, with a faster decline in the high-vaccination scenarios. High vaccination rates and compliance with public health prevention measures are essential to control the COVID-19 pandemic and to prevent surges in hospitalizations and deaths in the coming months.

Introduction: Chronic total occlusions (CTO) of the superficial femoral artery (SFA) are generally managed by an endovascular retrograde contralateral “crossover” or ipsilateral antegrade common femoral artery (CFA) approach. In cases with flush occlusion or a very short SFA stump at common CFA bifurcation, antegrade recanalization frequently fails due to an inability to engage the true ostium of the SFA. The purpose of this study was to evaluate the efficacy and safety of retrograde popliteal approach for endovascular revascularization of flush SFA CTO. Materials and Methods: We retrospectively investigated 18 patients (14 males and 4 females, mean age 61 ± 14 years) with flush SFA CTO undergoing retrograde popliteal artery (PA) revascularization at two endovascular centers in North India between January 2017 and December 2018. All the patients had critical limb ischemia (CLI) and flush SFA CTO with ostial involvement. Hemostasis was achieved by the manual compression only. Study endpoints were technical success rate, puncture site complications, and limb salvage. Results: CLI with Rutherford category 5 dominated the clinical presentation (56%) with most of the patients presenting late after disease onset. Majority were Trans-Atlantic Inter-Society Consensus-C (72%) chronic SFA occlusions (mean lesion length 185 ± 52 mm). Doppler-guided popliteal puncture and sheath placement were successful in 100%. Technical success rate of retrograde revascularization was 83%. Intraluminal recanalization was possible in 56% from the popliteal access, and subintimal recanalization was done in 28%. There was no major access site-related complication or mortality in the follow-up period. The primary patency rates at 6 months and 1 year postintervention were 93% and 80%, respectively. Conclusions: Retrograde PA approach under Doppler guidance was effective in terms of technical success rate of popliteal puncture as well as retrograde revascularization of flush SFA CTO. The approach was safe with no major access site complications.

Introduction: The term “chronic dermatophytosis” can be described as patients who have suffered tinea infections for more than 6 months, with or without recurrence. Since last few years we are facing an onslaught of chronic and recurrent dermatophytosis. These infections are increasingly becoming debilitating with severe symptoms like itching and increasingly showing lack of response to traditional treatment, hence it has become utmost important to assess impact of dermatophytosis today on quality of life of patients. Objectives: To determine quality of life in patients with chronic dermatophytosis using Dermatology Life Quality Index (DLQI). Materials and Methods: Adult literate patients having chronic dermatophytosis which was confirmed by KOH mount were included in the study. History, clinical features and other relevant details were included in a proforma. All patients were asked to fill DLQI questionnaire in Hindi. Controls having disease for less than six months were also included. Data thus obtained was collected and tabulated. The data was analysed using SPSS software and relevant statistical tests were used. Results: Total number of cases collected were 263, 137 controls were also included. In gender distribution, cases had 71.86% males and 28.14% female while controls had 63.5% males and 36.5% females. Mean DLQI of cases was 14.28+/-5.16 and controls was 11.56+/-3.60. DLQI distribution of cases -162(61.6%) had very large effect, 64(24.33%) had moderate effect, and 32(12.17%) had extremely large effect on DLQI. Domains of Symptoms and feelings (72.67%), work and school related activities (69%) and treatment related problems (67.67%) posed maximum impairment. Quality of life derangement increased significantly with presence of lesions on both exposed and non exposed sites and increase in body surface area. Conclusion: While superficial dermatophytosis affects quality of life (QoL) in all patients, chronic dermatophytosis has a significantly more derogatory effect on the QoL of a person with some of the patient also showing extremely large effect on QoL.

Diabetic kidney disease (DKD) occurs in approximately 20–40% of patients with type 2 diabetes mellitus. Patients with DKD have a higher risk of cardiovascular and all-cause mortality. Angiotensin-converting enzyme inhibitors or angiotensin receptor blockers and antihyperglycemic drugs form the mainstay of DKD management and aim to restrict progression to more severe stages of DKD. Sodium-glucose cotransporter 2 inhibitors (SGLT2i) control hyperglycemia by blocking renal glucose reabsorption in addition to preventing inflammation, thereby improving endothelial function and reducing oxidative stress; consequently, this class of prescription medicines is emerging as an important addition to the therapeutic armamentarium. The EMPA-REG OUTCOME, DECLARE TIMI 58, and CANVAS trials demonstrated the renoprotective effects of SGLT2i, such as restricting decline in glomerular filtration rate, in the progression of albuminuria, and in death due to renal causes. The renoprotection provided by SGLT2i was further confirmed in the CREDENCE study, which showed a 30% reduction in progression of chronic kidney disease, and in the DELIGHT study, which demonstrated a reduction in albuminuria with dapagliflozin compared with placebo (− 21.0%, confidence interval [CI] − 34.1 to − 5.2, p = 0.011). Furthermore, a meta-analysis demonstrated a reduced risk of dialysis, transplantation, or death due to kidney disease (relative risk 0.67; 95% CI 0.52–0.86; p = 0.0019) and a 45% risk reduction in worsening of renal function, end-stage renal disease, or renal death (hazard ratio 0.55, CI 0.48–0.64, p

SummaryWhat is already known about this topic?The highly transmissible SARS-CoV-2 Delta variant has begun to cause increases in cases, hospitalizations, and deaths in parts of the United States. With slowed vaccination uptake, this novel variant is expected to increase the risk of pandemic resurgence in the US in July—December 2021.What is added by this report?Data from nine mechanistic models project substantial resurgences of COVID-19 across the US resulting from the more transmissible Delta variant. These resurgences, which have now been observed in most states, were projected to occur across most of the US, coinciding with school and business reopening. Reaching higher vaccine coverage in July—December 2021 reduces the size and duration of the projected resurgence substantially. The expected impact of the outbreak is largely concentrated in a subset of states with lower vaccination coverage.What are the implications for public health practice?Renewed efforts to increase vaccination uptake are critical to limiting transmission and disease, particularly in states with lower current vaccination coverage. Reaching higher vaccination goals in the coming months can potentially avert 1.5 million cases and 21,000 deaths and improve the ability to safely resume social contacts, and educational and business activities. Continued or renewed non-pharmaceutical interventions, including masking, can also help limit transmission, particularly as schools and businesses reopen.

The 4th epiDAMIK@SIGKDD workshop is a forum to discuss new insights into how data mining can play a bigger role in epidemiology and public health research. While the integration of data science methods into epidemiology has significant potential, it remains under studied. We aim to raise the profile of this emerging research area of data-driven and computational epidemiology, and create a venue for presenting state-of-the-art and in-progress results-in particular, results that would otherwise be difficult to present at a major data mining conference, including lessons learnt in the 'trenches'. The current COVID-19 pandemic has only showcased the urgency and importance of this area. Our target audience consists of data mining and machine learning researchers from both academia and industry who are interested in epidemiological and public-health applications of their work, and practitioners from the areas of mathematical epidemiology and public health.

Background: Polycystic ovary syndrome (PCOS) is associated with insulin resistance and elevated risk of cardiovascular disease and diabetes. Chronic inflammation has been observed in PCOS in several studies but there is also opposing evidence and a dearth of research in Indians. Objective: To estimate chronic inflammation in PCOS and find its relationship with appropriate anthropometric and biochemical parameters. Materials and Methods: Chronic inflammation was assessed in 30 women with PCOS (Group A) and 30 healthy controls (Group B) with highly sensitive C-reactive protein (hsCRP), interleukin-6 (IL-6), tumour necrosis factor alpha (TNFα), and platelet microparticles (PMP). In group A, the relationship of chronic inflammation with insulin resistance, waist hip ratio (WHR) serum testosterone, and serum glutamate pyruvate transaminase (SGPT) were examined. Results: In group A, the hsCRP, TNFα, and PMP were significantly elevated compared to group B. However, IL-6 level was similar between the groups. In group A, PMP showed a significant positive correlation with waist-hip ratio and serum testosterone. IL-6 showed a significant positive correlation with insulin sensitivity and significant negative correlation with insulin resistance and serum glutamate pyruvate transaminase. Conclusion: PCOS is associated with chronic inflammation and PMP correlates positively with central adiposity and biochemical hyperandrogenism in women with PCOS. Key words: Polycystic ovary syndrome, Inflammation, C-reactive protein, Interleukin-6, Tumor necrosis factor, Microparticles.

Background Pycnodysostosis is an autosomal recessive skeletal dysplasia with easily recognizable clinical features and marked molecular heterogeneity. In this study, we explored the clinical and molecular spectrum of 25 Indian patients with pycnodysostosis from 20 families. Methods Clinical information was collected on a predesigned clinical proforma. Sanger method was employed to sequence all the exons and exon/intron boundaries of the CTSK gene. Novel variants were systematically assessed by prediction softwares and protein modelling. The pathogenicity of variant was established based on ACMG-AMP criteria. An attempt was also made to establish a genotype-phenotype correlation and devise a diagnostic scoring system based on clinical and radiological findings. Results Consanguinity and positive family history were present in 65% (13/20) and 45% (9/20) of the families respectively. Short stature and fractures were the predominant presenting complaints and was evident in 96% (24/25) and 32% (8/25) of affected individuals respectively. Gestalt facial phenotype and acro-osteolysis were present in 76% (19/25) and 82.6% (19/23) of the individuals respectively. Hepatosplenomegaly was present in 15% (3/20) of the individuals with one of them having severe anaemia. Causative sequence variations were identified in all of them. A total of 19 variants were identified from 20 families amongst which 10 were novel. Homozygous variants were identified in 90% (18/20) families. Amongst the novel variants, there was a considerable proportion (40%) of frameshift variants (4/10). No significant genotype-phenotype correlation was noted. Scoring based on clinical and radiological findings led to the proposal that a minimum of 2 scores in each category is required in addition to high bone density to diagnose pycnodysostosis with certainty. Conclusion This study delineated the genotypic and phenotypic characterisation of Indian patients with pycnodysostosis with identification of 10 novel variants. We also attempted to develop a clinically useful diagnostic scoring system which requires further validation.

Introduction Polymerase chain reaction (PCR) testing of cerebrospinal fluid (CSF) is a sensitive and specific method in diagnosing herpes simplex virus (HSV) encephalitis. However there are increasing reports of false negative HSV PCR. Case description We present a patient in the 9th decade of life with abnormal behavior and focal seizures with MRI showing a right temporal T2 hyperintense non-enhancing lesion with electrographic evidence of right lateralized periodic discharges. CSF analysis and PCR for HSV-1 and 2 yielded negative results twice, and therefore acyclovir was discontinued. Patient initially improved following correction of hyponatremia. Patient however deteriorated and imaging revealed a new right parietal lesion. Third CSF sample showed lymphocytic pleocytosis with positive HSV-1 PCR. Patient improved following antiviral treatment. Discussion Acyclovir treatment should continue in high clinical suspicion scenarios despite negative HSV PCR. We further discuss causes of PCR false negatives and challenges it poses for patient care., Neuroscience; Nervous System; Viral Disease; Neurology; Diagnostics; neurovirology, MRI, infectious disease, EEG

Introduction: Since the late 1980s, critical illness myopathy (CIM) and polyneuropathy (CIP) have been increasingly recognized in the intensive care unit (ICU). We explored whether these causes of ICU weakness were now more likely to lead to electrodiagnostic studies (EDX) at our institution than they were 19-20 years earlier. Methods: We reviewed 100 consecutive ICU patients who underwent EDX from 2009-2015 and compared them to a previously reported study population from 1990-1995.10 Results: Thirty-seven (39%) had CIM, CIP, or both versus 55% in the previous study (p=0.04). Thirty-four (36%) were diagnosed with “traditional” pre-ICU causes of weakness, such as motor neuron disease or Guillain-Barre syndrome, versus 29% in the earlier study (p=0.3). Discussion: CIM and CIP continue to be common disorders that lead to ICU EDX, but their proportion declined compared to 19-20 years earlier, possibly due to the perceived role and selective use of EDX in the ICU. This article is protected by copyright. All rights reserved.

Objective: 17-α-Hydroxylase deficiency (17-OHD) is a very rare disorder of adrenal and gonadal steroidogeneis. The patient usually presents as a phenotypic female with hypertension, hypokalemia, and delayed puberty due to hypergonadotropic hypogonadism. Karyotype may be 46,XX or 46,XY. Timely diagnosis leads to effective management of the patient and appropriate screening of family members.Methods: Case report and review of the literature.Results: A 24-year-old woman presented with primary amenorrhea and poor development of secondary sexual characters along with persistent hypokalemia and hypertension of several years duration. Examination did not show any stigma of Turner syndrome, features of any pituitary hormone deficiency, or hypothyroidism. Further evaluation revealed hypergonadotropic hypogonadism with persistent hypokalemia and refractory hypertension. The karyotype was 46,XX. Possible diagnosis of 17-OHD was considered, which was supported by low serum cortisol, high adrenocorticotropic hormone, and very high serum progesterone level and suppressed plasma renin activity. The patient had a younger sister (11 years old) whom we called for evaluation. She was found to have diffuse skin and mucosal hyperpigmentation along with hypertension. Analysis of the CYP17A1 gene of these two patients revealed a homozygous mutation, p.R362C (c.1084C>T), which has been shown to completely abolish the activity of both 17-α-hydroxylase and 17,20-lyase.Conclusion: The p.R362C (c.1084C>T) mutation led to 17-OHD in two sisters. One sister was diagnosed as a result of family screening. This is the first report of this mutation in India.Abbreviations: 17-OHD 17-α-hydroxylase deficiency; ACTH adrenocorticotropic hormone; CYP17A1 cytochrome P450 17-α-1; PRA plasma renin activity

Progressive multifocal leukoencephalopathy (PML) is a life-threatening central nervous system (CNS) disorder, most commonly described in patients infected with the human immunodeficiency virus (HIV). Limited data exist on its natural history and treatment in solid organ transplant (SOT) recipients. A complication of PML is the immune reconstitution inflammatory syndrome (IRIS), which develops after T cell reconstitution and can have severe consequences when it occurs in the CNS. While well described in HIV-infected individuals, its clinical features, diagnosis, and treatment after SOT are largely unknown. We report a case of a kidney transplant recipient who was diagnosed with PML and developed significant worsening of her symptoms upon reduction of immunosuppression. Thallium SPECT showed avid uptake suggestive of lymphoma, but the diagnosis of PML-IRIS was ultimately established by brain biopsy. She survived with nearly complete restoration of her functional status after a prolonged steroid taper.

Osteolysis, caused by active resorption of bone matrix by osteoclasts, can be primary or can develop secondary to a variety of disease processes. An elevated level of inflammatory cytokines in the local milieu and increased blood flow secondary to infection or autonomic neuropathy stimulate the osteoclasts and cause bone loss in the diabetic foot. Charcot's neuroarthropathy and osteomyelitis are well-known foot complications of diabetes, and secondary osteolysis has largely been underappreciated and, hence, underreported. Plain radiographs, an initial component in the evaluation of the diabetic foot, may not successfully differentiate secondary osteolysis from osteomyelitis. We describe a patient with phalangeal osteolysis secondary to soft-tissue infection in whom a correct and timely diagnosis helped avoid unnecessary surgical interventions.

Background There is a constant search for an ideal treatment for vitiligo. Platelet-rich plasma (PRP) is a novel modality for treating stable vitiligo. Presently, literature regarding the efficacy of combining either PRP or platelet-poor plasma (PPP) with psoralen+sunlight (PUVASOL) in vitiligo does not exist. Objective This study compares the safety and efficacy of combining PUVASOL with either PRP or PPP against PUVASOL alone in patients with stable nonsegmental vitiligo. Patients and methods This prospective, open-labeled, comparative study was done in 20 patients with stable nonsegmental vitiligo, each having at least three vitiligo patches of similar shape and size. All the patients received PUVASOL as standard treatment modality. PRP or PPP was injected into two separate study patches as an adjuvant treatment with PUVASOL; however, the third patch acted as a control and was treated by PUVASOL alone. These patients were followed up for 4 weeks after the end of four treatment sessions. Results Compared with control areas (exposed to PUVASOL only), statistically significant more repigmentation was seen in areas treated with a platelet preparation (either PRP or PPP) along with PUVASOL. However, there was no significant difference between PRP and PPP arm (P=0.824) as per qualitative and quantitative assessment. Conclusion Addition of a platelet preparation (either PRP or PPP) had an additive beneficial effect on the response of PUVASOL therapy in patients with stable vitiligo at the study end point of 16 weeks. However, PRP and PPP showed comparable efficacy at the study end point in terms of repigmentation when used in conjunction with PUVASOL.

Introduction Critical hand ischemia with advancing gangrene of digits requires urgent intervention to salvage as much tissue as possible. The purpose of this study was to evaluate the efficacy of “palmar arch loop” technique for endovascular management of critical hand ischemia by establishing inline flow to the palmar arch via both radial artery and ulnar artery, in patients with failed antegrade recanalization. To the best of our knowledge, this is the first case series evaluating the efficacy of “palmar arch loop” technique, with retrograde percutaneous transluminal angioplasty of the involved radial artery and/or ulnar artery. Material and methods We retrospectively investigated 10 patients (60% female; mean age 42 ± 18 years; mean time of presentation post-acute event 24 ± 11 days) with critical hand ischemia undergoing endovascular intervention using “palmar arch loop” technique at a single center in northern India between April 2017 and March 2019. All patients were followed up at regular intervals (weekly for a month, fortnightly for 3 months, and then at 6 and 12 months) with clinical assessment and SpO2 measurement. Study end points were technical success rate, hand healing, and primary patency rate at one year. Results Causes for critical hand ischemia were iatrogenic injuries due to inadvertent intra-arterial injection in 50% ( n = 5) and thromboembolic events in 50% patients ( n = 5). Vessels involved were: both radial artery and ulnar artery along with the PA in 50%; radial artery and palmar arch in 30%; ulnar artery and palmar arch in 20%. All of them had total occlusion of the involved vessel (>2/3rd of total length) with occlusion/diffuse disease of palmar arch as well; 70% technical success rate was achieved ensuring inflow to palmar arch via both the arteries with improved flow distally to the common and proper digital arteries. Retrograde percutaneous transluminal angioplasty of radial artery in 50% ( n = 5) and ulnar artery in 20% ( n = 2) was done successfully by looping the guidewire across the palmar arch; 90% showed subjective improvement in pain with healing of the lesions and/or formation of clear line of demarcation with reversal of pregangrenous changes proximally. Out of the eight patients with gangrene of fingers, three underwent minor amputation of the gangrenous digits and five underwent auto-amputation of the gangrenous tissue with complete healing of the stump. Primary patency rate was 85.7% at one year. There was no access site-related complication or mortality in the follow-up period. Conclusions Endovascular management of critical hand ischemia by “palmar arch loop” technique is an efficient technique to deal with occluded forearm vessels, particularly when antegrade recanalization fails. This technique, with good technical success and patency rates, is potentially a unique tool in the endovascular armamentarium for salvaging hand.

Background: Postoperative nausea and vomiting (PONV) was termed “the big little problem” nearly a quarter century ago in an editorial .The past decade has witnessed the introduction of several significant innovations to combat PONV, but it still remains as big a problem as before because newer choices and confusions over standardization added side by side . The aim of this study is to compare the efficacy of palonosetron with that of granisetron and ondansetron in the treatment and prevention of postoperative nausea and vomiting after laparoscopic cholecystectomy. Methods: This randomized prospective comparative clinical study was carried out in the NIMS Medical College & Hospital, NIMS University, Jaipur, during the period of January 2013 to December 2013 amongst female patients of ASA grade I and II (ASA = American Society of anesthesiology) , scheduled for laparoscopic cholecystectomy under general anesthesia. A total number of 90 patients were selected and randomized into three groups of 30 patients each. Group-I was given inj. palonosetron (0.25 mg), Group-II was given inj. granisetron (1 mg) and Group–III was given inj. ondansetron (8 mg). One way analysis of variance (ANOVA) and Pearson’s Chi-square test were done as the tests of significance whenever applicable to compare the mean of different groups. Results: The incidence of nausea was 10% in Palonosetron-group while it was found to be 60% in Ondansetron-group. The incidence of vomiting was 6.7% in group-I, 26.6% in group-II & 53.3% in group-III respectively. The difference was statistically significant between group I vs group II (p

The case study relates to firearm suicide by a security personal and such incidents are very common among armed forces Incident of firearm cases are often reported to forensic science laboratory for reconstruction to establish the crime There are various reasons contributed for such incidents among security forces It is observed either head or chest is the most common site for self inflicted firearm wound in almost all suicide cases In one case a security personal was on sentry duty with Indian Small Arms System INSAS rifle and committed suicide by his service firearm The deceased was lying in a pool of blood along with firearm and one fired cartridge case near the body The autopsy surgeon reported having entry wound on the back side situated in occipital bone cm above cervical vertebra and exit wound over the forehead of the deceased The observation was controversial since the presence of entry wound was at uncommon place showing absence of singeing blackening burning tattooing and devoid of impression of the muzzle In addition it was also difficult for the shooter to fire from back side Moreover such type of incident has never been reported in literature in suicide cases by firearm Further bullet wound study along with spot analysis could confirm the entry wound to be on forehead and exit on the back The mystery of origin of entry exit wound could be established by wound ballistics study

Introduction: Glycated hemoglobin (HbA1c) can be altered in different conditions. We hypothesize that HbA1c levels may change due to altered thyroid status, possibly due to changes in red blood cell (RBC) turnover. Objectives: The objective of this study was to determine the effects of altered thyroid status on HbA1c levels in individuals without diabetes, with overt hyper- and hypo-thyroidism, and if present, whether such changes in HbA1c are reversed after achieving euthyroid state. Methods: Euglycemic individuals with overt hypo- or hyper-thyroidism were selected. Age- and sex-matched controls were recruited. Baseline HbA1c and reticulocyte counts (for estimation of RBC turnover) were estimated in all the patients and compared. Thereafter, stable euthyroidism was achieved in a randomly selected subgroup and HbA1c and reticulocyte count was reassessed. HbA1c values and reticulocyte counts were compared with baseline in both the groups. Results: Hb A1c in patients initially selected was found to be significantly higher in hypothyroid group. HbA1c values in hyperthyroid patients were not significantly different from controls. HbA1c reduction and rise in reticulocyte count were significant in hypothyroid group following treatment without significant change in glucose level. Hb A1c did not change significantly following treatment in hyperthyroid group. The reticulocyte count, however, decreased significantly. Conclusion: Baseline HbA1c levels were found to be significantly higher in hypothyroid patients, which reduced significantly after achievement of euthyroidism without any change in glucose levels. Significant baseline or posttreatment change was not observed in hyperthyroid patients. Our study suggests that we should be cautious while interpreting HbA1c data in patients with hypothyroidism.

B ecause type 2 diabetes is a progressive disease, its natural course requires initiation of insulin in a significant proportion of patients, especially when oral agents fail to achieve glycemic targets. Most practicing physicians and endocrinologists acknowledge that neither the transition to nor the journey with insulin treatment is often as smooth as one would hope. Most have occasionally met with patients who plead for help in controlling their blood glucose levels with oral drugs alone. Often, doctors struggle to persuade such patients to start insulin. In this article, we share some of our experiences—some common throughout the world and others unique to our country—in caring for patients who are prescribed insulin. It is important to learn from these experiences with insulin because it represents, more often than not, the last arrow in our treatment quiver. The patient was a 45-year-old man who has had type 2 diabetes for the past 6 years and had been taking insulin for the past 2 years. His body weight was 50 kg (BMI 24 kg/m2). He presented with uncontrolled and recently increased blood glucose levels and a dramatic increase in insulin dose during the past 5 months without any apparent cause. He had no history of fever, infections, or steroid use. He had had multiple hospital visits during the past few months. Figure 1. Discoloration with hypertrophy on medial aspects of both thighs on the site where the patient described in Case Study 1 was injecting insulin. The patient appeared to be well educated and concerned about this situation. To our surprise, however, we found he was injecting insulin on the medial aspect of his thighs. Examination showed lipohypertrophy with swelling in that region (Figure 1). The crowded clinic with its lack of trained diabetes educators and nurses was the perfect setting for this …

Background and objective: Metformin is often used as a first-line therapy for Type 2 diabetes mellitus (T2DM), but the glycemic response to metformin is variable in patients. Here, we aimed to assess the inter-patient variability in terms of glycemic response to metformin in the state of West Bengal, India. Material and methods: We enrolled newly diagnosed treatment naive 113 patients with T2DM. Patients were subjected to assay of glycated hemoglobin (HbA1c), fasting blood glucose (FBG), postprandial blood glucose (PP) and measurement of body mass index (BMI), waist circumstances (WC) before and after the end of 3 months of immediate release metformin (2000mg/day) therapy. Results: Out of 113 patients, 111 (58 male and 53 female; average age 43.13 years) were provided with 3 months of metformin therapy. 102 individuals responded to metformin, but HbA1c levels of 9 patients did not improve after 3 months of drug therapy. Conclusions: In the present study, metformin lead to improvements in glycemic control in 92% of newly diagnosed T2DM patients but in 8% does not which is much less in this part of India.

The XX male syndrome, first reported in 1964, is an unusual cause of male factor infertility. Its relative rarity coupled with the presence of unambiguous male external genitalia in most patients with this syndrome makes clinicians overlook the condition in the differential diagnosis of primary infertility. We report five genetically proven XX males, who all presented with azoospermia and primary infertility (four out of five), and discuss their phenotypic characteristics and hormonal profiles to make treating physicians aware of this diagnosis in appropriate settings.

Pseudoacromegaly or acromegaloidism is a clinical condition characterised by physical signs suggestive of excess growth hormone (GH) but with normal functioning of the GH—insulin-like growth factor-1 (IGF-1) axis. A number of disease entities, such as pachydermoperiostitis, severe insulin resistance, familial mandibular prognathism, acromegaloid facial appearance and chronic intake of phenytoin and minoxidil, are known to be associated with pseudoacromegaly. When clinical features of acromegaly are associated with normal baseline and dynamic GH and IGF1 levels, ‘burned out’ or ‘silent’ acromegaly due to spontaneous infarction of a GH-secreting pituitary adenoma should also be considered. Long-standing severe primary hypothyroidism rarely present with skin and soft tissue changes suggestive of acromegaly and the scenario gets further complicated by the radiological evidence of pituitary enlargement potentially culminating in diagnostic …

Testicular metastasis from a solid malignancy of the distant organ is a rare entity and prostate, gastrointestinal tract, lungs, skin, and kidneys are the common primaries. Gastric carcinoma with testicular metastasis is an extremely rare entity with only few cases reported in the literature. Most of the testicular metastases are unilateral. Synchronous bilateral testicular metastasis is an extremely rare situation in gastric primary. We report a first case of synchronous bilateral testicular metastasis in a treated case of gastric carcinoma in India.

Acral metastasis is rare in incidence with poor prognosis due to presence of widespread metastases during presentation. Lung is the most common primary for acral metastases followed by breast and kidney. Acrometastasis with head and neck primary is an extremely rare situation with only few cases reported in the literature. Here, we present a case of acral metastases in a 40-year-old male. The patient was previously diagnosed as a case of squamous cell carcinoma of gingivobuccal sulcus on the left side, and for which, he had undergone radical surgery followed by adjuvant concurrent chemoradiation 6 months back. The patient had local recurrence with multiple metastatic pleural nodules during diagnosis of acral metastasis. The patient was treated with one cycle of palliative chemotherapy followed by amputation of the metastatic finger. However, after 2 months of treatment, the patient was died due to the disease progression.

Renal tubular disorders are an important cause of refractory rickets. Wilson′s disease, an inherited disorder of copper metabolism has varied presentations. We present a case of refractory rickets due to Fanconi′s syndrome attributable to Wilson′s disease. An adolescent girl presented with pain in the hip and knee joints and a knock-knee deformity since six years. She had received multiple doses of cholecalciferol with little improvement. There was no history of seizures, polyuria, jaundice, intake of drugs, or similar complaints in the family. Examination revealed a severely short stature with widening of the wrist joint and genu valgum. Examination of the central nervous system (CNS) was normal. Skeletal radiographs showed features suggestive of rickets at the hip and knee joints. Routine biochemistry was normal, 25-hydroxyvitamin D [25(OH)D] was adequate (57.1 ng/dL), with normal corrected calcium (9.24 mg/dL), low phosphate (2.76 mg/dL), elevated bone-specific alkaline phosphatase, and normal renal functions. Twenty-four-hour urine revealed phosphaturia, kaliuresis, and glucosuria with normal blood sugars and aminoaciduria. Blood gas analysis revealed normal anion gap metabolic acidosis with a urine pH of 7. Ammonium chloride (NH 4 CL) challenge test revealed proximal tubular acidosis. A search for causes revealed Kayser-Fleischer rings. The diagnosis of Wilson′s disease was confirmed by low serum ceruloplasmin levels (6.5 mg/dL; normal: 18-35 mg/dL) with high 24-hour urine copper levels (433 mcg; normal: 20-50 mcg). She was started on a replacement of alkali, phosphate, calcium, and vitamin D, with zinc acetate for Wilson′s disease. Rickets as a presenting feature of Wilson′s disease has been reported rarely. Recognition of this entity is important, as treatment of the primary condition may improve tubular function as well.

Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathke′s cyst (RC) is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC. This is perhaps the first report of simultaneous occurrence of EN and RC, which was seen in a girl with multiple pituitary hormone deficiency. A primary defect in pituitary development may explain this simultaneous occurrence of EN and RC and hence this severe anterior pituitary function deficit.

Background: A 10-year-old boy presented with genital ambiguity, poor linear growth, and delayed milestones. The aim and to highlight that although rare but congenital, hypogonadotropic hypogonadism may rarely present as ambiguity. Materials and Methods: The patient was found to have bilateral cryptorchidism with proximal penile hypospadias, microphallus with a proportionate dwarfism with mildly delayed bone age, and karyotype 46XY. Euthyroid with normal steroid axis, growth hormone insufficient as suggested by auxology, low IGF1, and poor response to clonidine stimulation. MRI brain shows hypoplastic corpus callosum, hypoplastic anterior pituitary, and ectopic posterior pituitary bright spot. Results: The patient underwent laparoscopic removal of right intrabdominal testis and orchidoplexy was performed on the left one. Testicular biopsy revealed no malignancy and growth hormone replacement was initiated. The patient awaits definitive repair of hypospadias. Conclusion: As a provisional diagnosis of combined growth hormone and gonadotropin deficiency, most probable diagnosis is septo-optic dysplasia or de moseir syndrome leading to genital ambiguity.

Introduction: Allgrove′s syndrome is a rare autosomal-recessive disorder with only about 70 cases reported thus far and is characterized by alacrima, achalasia, and ACTH insensitivity among other clinical features. However, it has a widely variable clinical presentation, which may result in such cases remaining undiagnosed. Objective: To report a patient with impending Allgrove′s syndrome and to highlight the importance of clinical suspicion in diagnosing the same. Materials and Methods: A 2.5-year-old girl was diagnosed with impending Allgrove′s syndrome on the basis of clinical presentation, barium swallow study, Schirmer′s test, and hormonal evaluation. Results: A 2.5-year-old girl, born of non-consanguineous marriage, presented with failure to thrive and developmental delay with occasional vomiting on taking solid or semi-solid food for past 6 months. Examination revealed stunted weight (SDS of -4.4) and height (SDS of -4.76), and barium swallow showed presence of achalasia. On direct questioning, her mother mentioned presence of decreased tears on crying since birth, and Schirmer′s test confirmed the presence of dry eyes. Baseline ACTH was slightly elevated with normal basal and post-ACTH stimulation serum cortisol. Based on these findings, impending Allgrove′s syndrome was diagnosed with a plan for follow-up study of adrenal function. Conclusions: Allgrove′s syndrome may be an under diagnosed disorder as aclarima is often overlooked. However, a high index of clinical suspicion may help in avoiding adrenal crisis by diagnosing the condition early.

A 6-year-old Indian girl presented with progressive bowing of both legs for the last 4.5 years (figure 1). She was diagnosed as having rickets by her primary care physician and was treated with multiple courses of vitamin D, without effect. Her immediate postnatal history and developmental milestones (language, social and motor) were normal and she started walking without support at 1 year. She had been breast fed exclusively until 6 months and was on an age-appropriate average Indian non-vegetarian diet with adequate milk intake. The deformity was associated with neither muscular weakness, myalgia, carpopedal spasm nor failure to thrive. Clinical examination revealed severe short stature (height SD score:−3.5) with an upper segment: lower segment ratio of 1.4:1. She was obese (weight: 32 kg; height: 94 cm; body mass index: 36.2 kg/m2 (>97th centile)) with no stigmata of hypercortisolism/hypothyroidism or Albright's hereditary osteodystrophy. Her head circumference was normal with no frontal bossing; she had no widening of wrists or ankles, no prominent costochondral junction and no dental anomalies. Figure 1 Child with bowing of both legs. Baseline …

Objective To investigate the frequency of various nonorthostatic complaints in children with postural orthostatic tachycardia syndrome (POTS). Study design We used our autonomic laboratory database to identify all pediatric patients with traditionally defined POTS who had completed the Ohio Dysautonomia Survey (ODYSA). The responses of the patients to questions targeting various autonomic complaints, including syncope, gastrointestinal symptoms, sleep disturbances, headaches, urinary symptoms, chronic pain, and Raynaud-like symptoms, were collected and analyzed. Results A total of 53 pediatric patients completed the ODYSA questionnaire. The participants reported high frequencies of sleep abnormalities, chronic pain, Raynaud-like symptoms, and gastrointestinal abnormalities, with lower rates of headaches, syncope, and urinary complaints. Conclusions Our findings demonstrate the occurrence of various nonorthostatic symptoms in pediatric patients with POTS. These findings suggest the need for an interdisciplinary approach to the treatment and management of POTS, as well as for further investigation into the mechanisms that lead to the concurrent presentation of both orthostatic and nonorthostatic symptoms in these patients.

Background: High dose oral prednisolone (100 mg/day) in Graves′ orbitopathy (GO) is limited by lesser response, and greater side-effects compared to intravenous (iv) methylprednisolone. Low dose oral prednisolone has not been evaluated in GO. This study aimed to evaluate the safety and efficacy of low dose oral prednisolone in GO. Materials and Methods: A total of 114 consecutive GO patients were screened of which 65 patients with previously untreated moderate-severe GO, clinical activity score (CAS) >2, without co-morbid states were randomized into treatment Group-A (iv methylprednisolone 0.5 g for 3 days/month for 4 months) and Group-B (oral prednisolone 1 mg/kg/day for 6 weeks then tapered stopped), and followed-up. Thirty-one patients in each group with at least 1-year follow-up were analyzed. Responders were defined as improvement in ≥ 1 major response criteria or ≥ 2 minor response criteria. The trial is registered at ctri.nic.in (CTRI/2013/12/004264). Results: At 1-year, 27/31 (87.10%) patients were responders in Group-A compared to 17/31 (54.84%) in Group-B (P = 0.005). There was a greater improvement in CAS score in patients of Group-A as compared to Group-B (P < 0.001). Responders (n = 44) had significantly higher baseline intra-ocular pressures and left eye proptosis as compared to nonresponders. Cox-regression revealed baseline T 4 levels, diplopia, and smoking history were predictive of remission. Low dose prednisolone was well tolerated, and the occurrence of adverse events were comparable in both groups. Conclusions: Low dose oral prednisolone is inferior to iv pulse methylprednisolone in managing GO, having a comparable side-effect profile. It can be a safe second line alternative in patients intolerant to pulse iv methylprednisolone.

Introduction: Tuberculosis is the most common cause of Addison's disease in India. The exact status of adrenal reserve in tuberculosis is still an enigma and recovery of adrenal function is unpredictable. Objective: We report a case with a pre-Addisonian state and unchanged adrenal size after 1 year treatment. Materials and Methods: A 31-year patient with adrenal tuberculosis was diagnosed and treated with anti tubercular drugs (ATDs) and steroid. Results: A 31-year male, presented with fever and weight loss for 3½ months with anorexia, nausea, hyperpigmentation of skin, and buccal mucosa and weakness with past h/o adequately treated pulmonary tuberculosis at 3 years of age. On examination, the patient was anemic. A non-tender, firm right (Rt.) submandibular lymphnode was palpable. Investigations revealed: High erythrocyte sedimentation rate (ESR), negative HIV, and sputum for acid fast bacilli (AFB). Initial cortisol was high but subsequently became low with negative short synacthin test (SST). Computed tomography showed bilateral (B/L) enlarged hypodense adrenal mass with inconclusive fine needle aspiration cytology (FNAC) and negative AFB culture. Rt. submandibular lymph node FNAC showed caseating granuloma. ATDs and steroids were started, the lymphadenopathy regressed and symptoms subsided. However, after 1 year of treatment steroid withdrawal failed and adrenal size remained the same. Conclusion: The adrenal has considerable capacity to regenerate during active infection and ultimately become normal or smaller in size. However, in the case reported here, they failed to regress. Reversal of adrenal function following ATD is a controversial issue. Some studies have shown normalization following therapy, while others have contradicted it similar to the finding in our case.

Thyroid associated orbitopathy, although seen most commonly with thyrotoxicosis, is also known to occur in primary hypothyroidism. Myasthenia gravis is an autoimmune condition with an established association with autoimmune thyroid disease. We report the case of a patient who presented with recent onset unilateral ptosis that was fatigable with a history of proptosis since a year. On examination, she had a goiter, bilateral proptosis, restriction of upward gaze and adduction both eyes and normal pupils. Investigations revealed primary hypothyroidism with anti-thyroid peroxidase positive and anti-acetylcholine receptor antibody positive. Computerized tomography orbit showed thickening of medial and inferior rectus characteristic of thyroid orbitopathy. A diagnosis of primary hypothyroidism with thyroid orbitopathy with ocular myasthenia gravis was made. Patient is on Levothyroxine and anticholinesterase medications and is on follow-up. We present this case to highlight that the presence of ptosis in a patient with thyroid orbitopathy should alert the clinician to the possible coexistence of myasthenia gravis.

Germ cell tumors may lead to incomplete isosexual male precocity and are commonly located in the pineal gland. Germinomas of the basal ganglia are almost always unilateral and precocious puberty is a rare manifestation in them. We report a 9.5-year-old boy who presented with incomplete isosexual precocity due to bilateral basal ganglia germinoma.

Thyroid hormone resistance (THR) is a rare disorder with a prevalence of 1:40,000 and is commonly due to mutation in thyroid receptor β-isoform. Goiter is the most common presenting feature in patients of THR (66-95%) followed by behavioral abnormalities (60%). Severe mental retardation and short stature are uncommon. We present three patients of THR, all of whom presented with short stature and goiter. Patient-1 had attention deficit hyperkinetic disorder with severe mental retardation (IQ-52). Patient-2 presented with bleeding and non-palpable purpura and was diagnosed to have immune thrombocytopenic purpura (ITP). This is the first report of ITP in a patient of THR. Patient-3 in contrast had normal intelligence and presented with only short stature and goiter. Patients-1 and 2 had tachycardia which improved with propranolol. Propranolol can be a useful agent in the management of thyrotoxic symptoms in THR patients when thyroid hormone analogues are not available. Unlike previously reported case series of THR, short stature and goiter were the universal presenting features in our patients, probably reflecting the fact that such patients are more likely to seek medical care.

Objective: To present a rare case of gigantism. Case Report: A 25-year-old lady presented with increased statural growth and enlarged body parts noticed since the age of 14 years, primary amenorrhea, and frontal headache for the last 2 years. She has also been suffering from non-inflammatory low back pain with progressive kyphosis and pain in the knees, ankles, and elbows for the last 5 years. There was no history of visual disturbance, vomiting, galactorrhoea, cold intolerance. She had no siblings. Family history was non-contributory. Blood pressure was normal. Height 221 cm, weight 138 kg, body mass index (BMI)28. There was coarsening of facial features along with frontal bossing and prognathism, large hands and feet, and small goitre. Patient had severe kyphosis and osteoarthritis of knees. Confrontation perimetry suggested bitemporal hemianopia. Breast and pubic hair were of Tanner stage 1. Serum insulin like growth factor-1 (IGF1) was 703 ng/ml with all glucose suppressedgrowth hormone (GH)values of >40 ng/ml. Prolactin was 174 ng/ml. Basal serum Lutenising Hormone (LH), follicle stimulating Hormone (FSH) was low. Oral glucose tolerance test (OGTT), liver and renal function tests, basal cortisol and thyroid profile, Calcium, phosphorus and Intact Parathyroid hormone (iPTH) were normal. Computed tomographyscan of brain showed large pituitary macroadenoma. Automated perimetry confirmed bitemporal hemianopia. A diagnosis of gigantism due to GH secreting pituitary macroadenoma with hypogonadotrophichypogonadism was made. Debulking pituitary surgery followed by somatostatin analogue therapy with gonadal steroid replacement had been planned, but the patient refused further treatment.