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.

Clinical Profile of Adult Hemophilia Patients with Special Reference to FISH and WFHPE Score: An Observational Cross-sectional Study.

BACKGROUND AND OBJECTIVES: Hemophilia is an X-linked recessive inherited disease affecting the coagulation pathway due to congenital deficiencies in either factor VIII (hemophilia A) or factor IX (hemophilia B). The clinical assessment of a patient's functional ability and the state of joint conditions is carried out by the clinicians by administering questionnaires namely the Gilbert or the World Federation of Hemophilia Physical Examination (WFH-PE) score for joint condition and Functional Independence Score in Hemophilia (FISH) for joint function. Here, we have studied the clinical profile of adult hemophilia patients with the short- and long-term complications of the disease. Additionally, the FISH score and the Gilbert score are calculated to assess functional independence and joint condition, respectively. The scores were also compared according to the severity of the disease. MATERIALS AND METHODS: An observational cross-sectional study of 40 adult hemophilia patients was carried out in Sir Sayajirao General Hospital and Medical College, Baroda, Gujarat, India, over a period of 1 year. Data regarding age, sex, and complications associated with the disease were collected in the form of a questionnaire. The overall mean and standard deviation (SD) of FISH and Gilbert scores were calculated and correlated with the severity of the disease. RESULTS: The majority of cases (19) were between 20 and 40 years, and most (24) were diagnosed in childhood. All the subjects were male and all except one had hemophilia A. Family history was seen in only half of the cases. Nine had mild, 20 had moderate, and 11 had severe disease. Around 46% of the subjects had joint arthropathy with the knee joint most affected (60%) followed by the ankle (22.5%). The mean FISH score was 27.132 ± 4.0691 with a minimum score of 15 in severe disease suggesting more functional deficit. The average Gilbert score was 7.4 ± 2.985 with a maximum score of 14 in severe disease suggesting more joint damage Interpretations and conclusion: All subjects were male and except one all had hemophilia A. Majority were between 20 and 40 years but most were diagnosed before 10 years of age and only 50% had positive family history. Arthropathy is the most common complication with the knee joint being most affected. Majority of mild hemophiliacs achieved a maximum FISH score denoting maximum functional capacity. Compared to existing studies, our study showed better FISH scores in moderate hemophiliacs suggesting more functional independence. While comparing Gilbert's score to other studies, moderate and severe hemophiliacs in our study showed less joint damage.

Atypical Presentation of Primary Hyperparathyroidism as Recurrent Pancreatitis: A Case Report With a Review of the Literature.

The majority of the patients with primary hyperparathyroidism (PHPT) are asymptomatic. The most common organ systems involved in PHPT are the kidneys and the skeletal system. In rare instances, acute or chronic pancreatitis may be presenting feature in PHPT patients. The association between these both diseases is still the topic of debate. Here, we put forth a case of a 52-year-old female with three episodes of pancreatitis in the last six months who was diagnosed with PHPT during the fourth episode of pancreatitis based on raised serum amylase and serum lipase levels along with ultrasonography (USG) findings of the abdomen. Pancreatitis in the absence of additional risk factors such as gallstones and alcohol abuse along with raised parathyroid hormone (PTH), hypercalcemia and osteolytic bone lesions led us towards the diagnosis of PHPT. On radio imaging such as MRI and CT scans of the neck, parathyroid adenoma was found in the posterior aspect of the right lobe of the thyroid. She was treated with parathyroidectomy. Serum calcium and PTH levels normalised postoperatively. As can be seen from our case, recurrent pancreatitis with hypercalcaemia should be evaluated for PHPT.

Ataxia-Telangiectasia: A Case Report and a Brief Review.

Ataxia-telangiectasia (A-T) is a rare inherited syndrome that primarily presents as ataxia due to cerebellar involvement and dilated capillaries in the oculocutaneous region. But many more serious complications of the condition exist, due to which both the quality and length of life are severely affected. Some of these include opportunistic infections due to an abnormal immune system, various malignancies, and an increased sensitivity to ionizing radiation. Due to the involvement of multiple systems in the body, diagnosis of this condition could be tricky as it may manifest with uncommon signs like dystonic head movements seen in our case. We have presented the case of a 16-year-old male born out of a consanguineous marriage, with the major symptoms of walking difficulties, frequent falls, and jerky movements of the head. Similar or related complaints had been noted in the past in his siblings. Laboratory investigations revealed elevated levels of serum alpha-fetoprotein, while the confirmatory diagnosis was made by genetic testing of the ataxia-telangiectasia mutated (ATM) gene. The patient was treated with amantadine and clonazepam, along with speech therapy, but the prognosis remained poor due to the lack of curative treatment for A-T.

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.

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.

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.

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.

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.

Adjuvant Tocilizumab in the Treatment of Patients with Moderate to Severe COVID-19 Pneumonia: An Observational Study.

IMPORTANCE: As there is no definitive treatment available for covid-19 pneumonia, with timed administration of tocilizumab as an adjuvant therapy in moderate to severe covid-19 pneumonia, we can reduce mortality due to cytokine storm. OBJECTIVE: To determine effectiveness of tocilizumab as an adjuvant therapy in moderate to severe covid-19 pneumonia patients. DESIGN: Retrospective Observational study from the time period of April 2020 to December 2020. SETTING: This study has been carried out at SSG Hospital, a tertiary care hospital at Vadodara, Gujarat. PARTICIPANTS: 80 moderate to severe COVID-19 positive patients in the group of age 18-80 years requiring hospitalisation in whom tocilizumab (8mg/kg to a maximum dose of 800mg) was given, were enrolled in the study. The following patient details were collected and studied in relation to the use of tocilizumab- Biodata, Presenting complaints, past history of any illness, Drug history, Vitals and physical examination, Investigations, Treatment. Exposures: 80 patients of moderate to severe COVID-19 pneumonia who were given Injection tocilizumab (8mg/kg to a maximum dose of 800mg) were selected retrospectively. Main outcomes and Measures: We have correlated the outcome in the form of discharged or death with the help of parameters likes: Time to Clinical Improvement, Ventilator-Free Days, Duration of ICU Stay, Time to Clinical Failure, and Time to Hospital Discharge. RESULTS: Out of the total 80 patients, 29 patients were in the age group of more than 60 years, of which 7 were discharged and 22 died. The other 51 patients were less than 60 years of age, of which 28 patients were discharged and the rest 23 died. (p value 0.007). 63 patients out of the total 80 patients were males of which 31 (49.21%) recovered while 32 (50.79%) of them died. 5 (29.11%) females out of the total 17 female covid positive patients recovered while the other 12 (70.59 %) died. (p value 0.14). Conclusion and Relevance: In our study, we have observed that even after giving tocilizumab mortality was higher in patients above 60 years of age, two or more co-morbidities, SpO2 of less than 85% on the room air, SOFA scoring of more than or equal to 3, radiological involvement of more than 2 zones, higher score (>3) of inflammatory markers, higher level of mode of respiratory support like BiPAP or invasive ventilation. . This shows that the ideal time to give tocilizumab is when the patient is on NRBM support. By this it gives the maximum benefit. There was no difference in outcome in patients of either gender, blood pressure and on admission blood sugar levels, and co-administration of injection Ramdesivir. Significant percentage of patients died who had uncontrolled diabetes mellitus with insignificant p value, so further studies are required to find out the association.

Efficacy of tocilizumab in treatment of COVID-19 pneumonia: A case-control study from a tertiary care hospital.

Background and Objective: Coronavirus disease 2019 (COVID-19) is a viral infectious disease caused by the severe acute respiratory syndrome virus, which has affected billions of people across the globe. The pathogenesis of respiratory inflammation involves elevated concentration of interleukin-6; hence, interventions targeting interleukin-6 receptor, such as tocilizumab (TCZ), have been investigated as potential treatment amidst the dilemma of COVID-19 management. The aim of the study is to analyse the efficacy and safety of TCZ and record the outcome in COVID-19 patients. Materials and Methods: A retrospective case-control study of 80 patients in each group (N = 160) was carried out in a tertiary care hospital in Vadodara, Gujarat. Non-pregnant COVID-19-positive patients above 12 years of age were included in the study and were divided into case (those given TCZ) and control (those given standard treatment) groups after collecting their history and related data. From each group, further data was collected in the form of general and systemic examination, investigations and calculation of inflammatory and Sequential Organ Failure Assessment (SOFA) scores. Results: Overall mortality was less in the case group compared to the control group. Patients with moderate to severe disease, age <55 years, patients having no comorbidity and patients with higher oxygen demand had lower deaths when given TCZ. Inflammatory score <3 and SOFA score <6 were associated with reduced mortality in the case group. Additionally, the study found significant results by simultaneously analysing two parameters in combination, which has not been done in any other study to the best of our knowledge. Conclusions: Adjuvant TCZ therapy had overall mortality benefit compared to standard treatment, with specific benefit observed in those with increasing disease severity, young to middle-age group, absence of comorbidity, higher oxygen requirements and lower inflammatory and SOFA scores.