A Study of Clinical Profile and Treatment in Adult Hemophilia Patients with Special Reference to the Inhibitor Levels.

Introduction Hemophilia is an uncommon, X-linked recessive bleeding condition characterized by a lack of either factor VIII or factor IX. It is more prevalent in men. Due to the substantial impact inhibitor development has on patient prognosis, the primary treatment for hemophilia is the transfusion of recombinant factors. The aim of our study is to investigate 40 adult patients with hemophilia in terms of their clinical profile, clinically relevant risk factors for inhibitor development, therapy-related aspects such as treatment duration, factor requirements, transfusion frequency, presence of inhibitors, and complications. Methods This cross-sectional observational study involving 40 patients of hemophilia over 12 years of age was conducted at a tertiary care hospital in Gujarat. Data on sociodemographic characteristics, presenting complaints, bleeding episodes, hemophilia type, and medical history were gathered over a one-year span. Patients were stratified into mild, moderate, and severe groups based on their respective levels of factor activity. Various parameters, including the frequency of factor therapy, percentage of factor concentrate, inhibitor presence, and disease and therapy-related complications, were analyzed. The distribution of patients across these parameters was calculated and illustrated using pie charts. Results Nineteen out of 40 patients were from 20 to 40 years of age. The majority of cases (n=24), however, had been diagnosed before the patients reached the age of 10. All patients were male, and half of the patients (n=20) suffered from mild disease. The most common site of bleeding was the knee joint, and 33 cases had one to 10 bleeding episodes per year. Thirty-two out of 40 patients needed less than 40 factor vial transfusions, whereas eight needed more than 40 factor vial transfusions. Two cases of severe disease were positive for inhibitors of factor VIII, whereas one patient was found to have a hepatitis B virus (HBV) infection. Conclusions Hemophilia, a rare bleeding disorder, has primarily been studied in pediatric populations. This study, however, shifts the focus toward adult individuals. Our cohort consisted exclusively of male patients, with the predominant group diagnosed with hemophilia A and falling within the age range of 20 to 40 years. Most patients had been diagnosed before 10 years of age. The primary complication observed was joint bleeding, with the knee joint being the most commonly affected site. Approximately two-thirds of cases had a history of minor trauma necessitating factor replacement, yet only 5% exhibited the presence of inhibitors.

Half a Century in Hiding: A Unique Case of Tuberculoid Leprosy with an Unprecedented Incubation Period.

BACKGROUND Leprosy, also known as Hansen's disease, is a neglected tropical disease with low prevalence in the United States. The disease's long incubation period can cause delayed presentation, and most affected individuals have a history of travel or work in leprosy-endemic regions. The immune response to Mycobacterium leprae determines the clinical characteristics of leprosy, with tuberculoid leprosy being characterized by well-defined granulomas and involvement of peripheral nerves. The recommended treatment is a combination of dapsone and rifampin for 12 months. CASE REPORT A 78-year-old man with a history of extensive travel to Africa and Asia 50 years ago, presented with a non-tender, non-pruritic, and hypopigmented skin lesion on his left knee. Biopsy results confirmed granulomatous inflammation and the presence of Mycobacterium leprae, leading to a diagnosis of tuberculoid/paucibacillary leprosy. The patient received dapsone and rifampin treatment, which resulted in symptom improvement. CONCLUSIONS The patient's long incubation period of 50 years between exposure and symptom onset is remarkable and possibly one of the longest reported for tuberculoid leprosy. It emphasizes the importance of considering leprosy in cases with an extensive travel history and long incubation periods. Our patient's case presented contradictory staining results, suggesting potential sampling variation or a rare mixed leprosy form. Based on his clinical findings, he was diagnosed with tuberculoid leprosy. Early diagnosis and treatment are crucial to prevent irreversible nerve damage and improve patient outcomes. Healthcare providers should be vigilant in acquiring a detailed travel history to facilitate early diagnosis and appropriate management of leprosy cases.

Liver Involvement in Individuals with Obesity: A Cross-sectional Study from Western India.

BACKGROUND: Obesity is a largely neglected health problem in developing countries which leads to additional morbidities including nonalcoholic fatty liver disease (NAFLD), one of the most important causes of chronic liver disease. Central obesity is intricately related to the pathogenesis of the NAFLD, which over time could result in a fiogenic response and end-stage liver disease. We have attempted to study the association of various risk factors and laboratory investigations with the incidence of liver involvement in obese individuals. MATERIALS AND METHODS: A cross-sectional study of 210 patients was carried out in a tertiary care center in Western India. Patients above 18 years of age with either general or abdominal obesity were included and their history taking and general and systemic examination was done along with laboratory investigations and ultrasonography for visualize any liver involvement. RESULTS: Age >50 years, female gender, postmenopausal state, sedentary lifestyle, high body mass index (BMI), waist circumference (WC), and neck circumference were all risk factors for liver involvement in obese individuals. Raised C-reactive protein (CRP), serum glutamic-oxaloacetic transaminase (SGOT), triglycerides, low density lipoprotein (LDL), cholesterol, fasting blood sugar (FBS), 2-hour postprandial blood sugar (PP2BS), and low high density lipoprotein (HDL), serum protein, and albumin were significantly associated with liver disease. Patients having high NAFLD fiosis and BMI, aminotransferace ratio and diabetes (BARD) scores, or Metabolic syndrome (MS) was at a higher risk for liver disease. CONCLUSION: Advancing age, postmenopausal females, and lack of physical activity are risk factors for liver disease in obesity. Raised CRP and SGOT along with impaired lipid profile and glycemic control could be used as markers for fatty liver in obese individuals. MS greatly increases the risk of liver involvement in obese individuals.

Monosodium Glutamate (MSG) Symptom Complex (Chinese Restaurant Syndrome): Nightmare of Chinese Food Lovers!

Chinese food, containing the ingredient monosodium glutamate (MSG) as the main additive agent, results in a variety of symptoms in susceptible individuals. The spectrum of symptoms ranges from headache, sweating, abdominal pain, and urticaria to angioedema in severe cases. This group of symptoms is known as MSG symptom complex or Chinese restaurant syndrome (CRS). We reported one such case with unique dermatological manifestations in a young male, developed on the consumption of Chinese food, noticed first-time as per our knowledge. An adolescent male presented to the Emergency Department with high-grade fever, cough, shock, congested throat, and generalized skin rashes. After giving the history of ingestion of Chinese food prior to symptom onset, we suspected him of a case of CRS; our diagnosis was further supported by raised absolute eosinophil count (AEC) and immunoglobulin E (IgE) levels in the blood. The patient was given intramuscular adrenaline and intravenous corticosteroid in the emergencys department for anaphylaxis, followed by oral antihistaminic.

A Triad of Trichobezoar: Rapunzel Syndrome, Severe Malnutrition, and Cerebral Venous Thrombosis.

Trichobezoar is a rare condition almost exclusively seen in young females presenting with non-specific abdominal complaints and a history of psychiatric illness. In most patients, it is confined within the stomach; however, in some severe cases, it extends through the pylorus into the duodenum, jejunum, ileum, or even colon, known as Rapunzel syndrome. Conventional treatment includes laparotomy and psychiatric counseling to prevent relapses. We report the case of an 18-year-old female with no previous history of medical or psychiatric illness who presented with chief complaints of upper abdominal pain, nausea, occasional vomiting for the last six months, and generalized edema for the last three days. On examination, pallor, anasarca, and a palpable abdominal lump were present. On blood investigations, severe malnutrition was seen in the form of severe iron deficiency anemia and severe protein deficiency. Radiological evaluation revealed a large trichobezoar on the CT abdomen and endoscopy, whereas CT venography of the brain, done for persistent headache, showed hyperdense thrombi in the cortical veins. Exploratory laparotomy was done to remove trichobezoar, followed by medical management of malnutrition, cerebral venous thrombosis (CVT) with anticoagulants, and psychiatric counseling for trichobezoar. The association between trichobezoar, malnutrition, and CVT in our case is a further area of research.

Iron Status in Sickle Cell Anemia: Deficiency or Overload?

Background Sickle cell anemia (SCA) is a hereditary disease with defective hemoglobin (Hb) synthesis causing severe hemolytic anemia, pain crisis, and target organ damage. In SCA, several factors independently or in combination lead to derangement in iron stores. Some centers incorrectly prescribe iron therapy on the presumption that SCA would be associated with iron deficiency, but it is not always the case. This study attempts to evaluate the iron status in SCA patients and records the target organ damage present. Methodology A single-center cross-sectional study of 180 patients with sickle cell disease was carried out at a tertiary-care center in Western India. Patients >12 years of age were included in the study after confirming SCA using high-performance liquid chromatography (HPLC). The iron status of each patient was identified and patients were labeled as iron sufficient based on the following values: Hb (8.1-12 gm%), serum iron (S. iron) level (50-150 µg/dl), serum ferritin (S. ferritin) (50-200 ng/ml), and total iron binding capacity (TIBC) (251-450 µg/dl). The iron status of patients with different target organ damage was also analyzed. Results Demographic data revealed that 21-30 years was the most common age group affected by SCA along with a male preponderance. The most common presenting complaint was joint pain (68.9%), the most common sign was pallor (64.4%), most patients had a history of pain crisis (95.6%), and half of the patients had organomegaly (51.1%). Most of the patients had no complications, however, for those who did, hepatopathy (28.9%) was the most common. Conclusion While the majority of patients were iron sufficient, a considerable number had either iron deficiency or iron overload states, which emphasizes the necessity of investigating the iron status before deciding the course of treatment in SCA patients. Although the majority were unaffected, screening for end-organ damage should be carried out in all SCA patients.

Idiopathic Retroperitoneal Fibrosis Presented As Urinary Tract Obstruction.

Retroperitoneal fibrosis (RPF) or Ormond's disease is a very uncommon fibro-inflammatory disease, under the umbrella of systemic autoimmune diseases. The majority of cases are idiopathic, known as idiopathic RPF (IRPF); however, diseases secondary to other causes are also seen in clinical practice. The commonest presenting features are seen due to the effects of fibrous tissue around iliac vessels, aorta and ureters, where compression of ureters is the major and most common complication. Computed tomography (CT) scans and magnetic resonance imaging (MRI) are the modalities of choice for the diagnosis. The primary management involves medical therapy with corticosteroids and reserving surgical options for ureteric obstruction and related complications. We present a case of a 65-year-old man who presented with bilateral pedal oedema, facial puffiness, decreased appetite, decreased urine output, and breathlessness with dry cough, tachypnoea, hypoxia and crepitation in both lung fields on examination. The blood investigations were suggestive of acute kidney injury (AKI); whereas radio imaging diagnosed him as a case of bilateral hydroureteronephrosis with RPF. The patient was treated for AKI in the case of IRPF. Once the patient stabilized, a low-dose systemic steroid was started for IRPF, and subsequently, the patient underwent stent placement surgery for ureteric obstruction. RPF, being a rare disease, is difficult to diagnose. However, CT and MRI scanning can easily reveal fibrous tissue surrounding the aorta and ureters. Medical management with glucocorticoids is the backbone drug for the disease, keeping surgery as a reserved option for ureteric obstruction and its complications.

Emphysematous Cystitis: A Fatal Complication of Uncontrolled Type-2 Diabetes Mellitus.

Emphysematous cystitis (EC) is a rare type of complicated urinary tract infection mostly seen in elderly females with diabetes, characterized by gas within the bladder lumen and wall. The presenting symptoms are variable, ranging from no symptoms to severe sepsis. The commonly isolated organisms in urine cultures are Escherichia coli and Klebsiella pneumoniae. Imaging studies, namely plain conventional abdominal radiography and computed tomography, are necessary to make a definitive diagnosis of EC. The management includes medical treatment with culture-guided antibiotics, whereas surgical intervention such as cystectomy is rarely required in severe cases. Here, we have a case of a 48-year-old diabetic female diagnosed with EC on radio imaging. The patient was aggressively treated with higher antibiotics such as piperacillin/tazobactam, clindamycin, and fosfomycin along with measures to control blood sugars. However, she developed severe sepsis and succumbed to death. Our report presents one of the rare cases of EC as a life-threatening complication in diabetics, suggesting that every case of urinary tract infection in uncontrolled diabetics should be thoroughly investigated and treated to prevent fatal complications.

Association of Mean Platelet Volume With Vascular Complications in the Patients With Type 2 Diabetes Mellitus.

Background Diabetes mellitus (DM) is a global health concern that is predicted to involve over 10% of the adult population by the next decade. Vascular complications are the major source of mortality and morbidity in diabetics. Mean platelet volume (MPV) which indicates platelet activity may play a crucial role in the vascular effects of DM and, hence, can be used as a prognostic marker. We have attempted to study the association of MPV with the glycemic status, duration of diabetes, and presence of vascular complications in diabetics. Methods A cross-sectional study of 300 patients with type 2 DM aged ≥18 years admitted to the inpatient department of medicine was carried out in a tertiary care hospital. After subgrouping patients according to their glycemic status and MPV, the association between microvascular and macrovascular complications was studied. Results The majority of patients were >60 years of age and an increasing prevalence of vascular complications was noted with increasing age. Forty-six percent and 45% of the patients had microvascular and macrovascular complications, respectively. Ischemic heart disease (IHD) and retinopathy were the most common macrovascular and microvascular complications, respectively. Vascular complications in DM showed a significant association with MPV, fasting blood sugar (FBS), post-prandial blood sugar (PP2BS), glycated hemoglobin (HbA1c), and the duration of diabetes. Conclusion A high MPV was linked to poor glycemic control, a longer duration of diabetes, and an increased prevalence of vascular complications. Hence, MPV could be used as a cost-effective marker to predict vascular complications in patients with type 2 DM.

Mucormycosis, Diabetes and COVID-19 Pneumonia: Unleashing the Facts.

Background Mucormycosis (MM) is an angioinvasive locally destructive fungal infection. Before the coronavirus disease 2019 (COVID-19) pandemic, it was associated with diabetes (particularly diabetic ketoacidosis), immunosuppressive drugs and trauma. Among its various forms, cerebral invasion is considered to be highly fatal even if with long-term treatment. Treatment with injection amphotericin B (Amph-B) with early surgical interventions is highly efficacious. Liposomal preparation is considered to be superior in the context of fewer side effects. Methods We present a single-centre prospective study of 124 patients with MM in a tertiary care hospital. After the approval from the ethics committee, basic information was taken from all patients including all available past history about the COVID-19 infection and treatment. The studied outcomes were discharge, death and number of days of hospitalisation. Secondary objectives were to estimate the association of MM with known risk factors, to find the association of an outcome with various inflammatory markers, to determine adverse events with the use of injection Amph-B and posaconazole and to find the case fatality rate of MM. Results In our study, we observed that the number of patients with MM was double in the less than 60 years age group. However, mortality was 33.3% in the elderly as compared to 15.29% in patients less than 60 years of age. The majority of the patients (69.35%) were males, but no significant difference in mortality was seen between males and females. The case fatality rate was 20.97%. Ocular symptoms such as orbital swelling and pain were the common presenting symptoms. Almost all patients (93.54%) were diabetics. The non-diabetic group consisted of only 8 (6.4%) patients, and therefore, the comparison was not possible. A total of 20 (16%) out of 124 patients who had received high-dose steroids showed higher mortality (55%). Maximum patients (65.32%) had presented with MM following a past COVID-19 infection. However, a significant number of MM patients (20.96%) had a recent COVID infection and had higher mortality (57.69%) compared to their counterparts. The most common site of involvement in our study was the paranasal sinus (50%) and the outcome was the best in those patients whose disease was localised only to the sinuses, although among 14 (11.29%) patients with cerebral involvement, mortality was maximum (42.85%). Renal impairment and dyselectrolytemia were the most common adverse effects of Amph-B, and 46.42% of patients required surgical removal of the local part. Conclusion We saw that diabetes was a major contributory factor in the etiopathogenesis of MM. COVID-19 could also be a major causative factor by impairing the immune system; however, further studies at the molecular level are required to establish an association. The use of steroid cannot be the only independent risk factor, and other associated factors must be present. Treatment with antifungal and early surgical intervention had good outcomes. Treatment with conventional lyophilized Amph-B was equally efficacious as lipid-based solutions, but with more side effects. Hypokalemia and hypocalcemia were the most common electrolyte abnormalities associated with the use of injection Amph-B. Uncontrolled diabetes, the severity of the COVID-19 infection at presentation, acidosis, a high C-reactive protein level (above 100) and local brain involvement were associated with a poor outcome.

Sturge-Weber Syndrome: A Rare Case Report.

Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome characterized by angiomas involving the face, eyes, and brain (leptomeninges). Classical port-wine stains are seen in the ophthalmic and maxillary division of the trigeminal nerve. The most common presenting feature is seizures, the onset of which ranges from birth to late adulthood. Diagnosis is mainly done by brain radio imaging (CT scan and MRI with gadolinium contrast) where characteristic features of calcification and leptomeningeal enhancement are seen. We report a newly diagnosed case of SWS in a 31-year-old female patient who presented to our hospital with a complaint of generalized tonic-clonic (GTCS) type of convulsion two days prior to the admission with purple discoloration of the skin on the right side of the face, trunk, and right upper limb since birth. During the evaluation of past medical history, the patient was found to have a known case of epilepsy since the age of three months and on was on irregular treatment. To find out the cause of the seizure and skin lesions, further investigations were done which were suggestive of SWS in MRI and CT scanning of the brain. The patient was counseled about the syndrome and discharged on anti-convulsion treatment with advice for dye laser photocoagulation for port-wine stain.  SWS is a rare sporadic genetic disease and diagnosis is primarily done by evaluating history, the presence of port-wine stain, and characteristic features on brain radio imaging. As no definitive treatment is available yet, patients are being treated by medical and surgical interventions for symptoms as well as for associated complications.

A Rare Phenotype of Inherited Cerebellar Ataxia.

Ataxia is a syndrome of imbalance and incoordination, categorized as hereditary ataxias, degenerative ataxias (non-hereditary), and acquired ataxias. Hereditary ataxia is further classified based on its mode of inheritance. Here, we have reported a case of early-onset autosomal recessive cerebellar ataxia with retained reflexes in a young male with positive family history. A young male presented with ten years history of tremors in both hands and head, aggravated with work and relieved with rest, and imbalance while walking, which has now progressed to the level where the patient cannot walk without support. The patient's younger brother also had a similar history. Central nervous system examination revealed cerebellar ataxia with retained reflexes. After ruling out other causes of ataxia in this age group by investigations, we could make the diagnosis of early-onset cerebellar ataxia with retained tendon reflexes (autosomal recessive). Presenting as a disease of variable presentation, the important diagnostic cues are classification and localization of ataxia. The investigations should be focusing on those cases of ataxias that are treatable. Family history is important to identify hereditary ataxias, as well as in genetic counselling of the affected patients.