Larsen's syndrome is an exceedingly rare and debilitating skeletal disorder characterized by multiple bony deformities and joint contractures. A 47-year-old female grappled with its severe manifestations, including functional quadriplegia, limb atrophy, and various orthopedic surgeries. This is the only reported case of the concurrent presence of antiphospholipid antibody syndrome (APLA) and Larsen's syndrome.
View Article and Find Full Text PDFIntroduction: Chronic myeloid leukemia (CML) is a myeloproliferative disease caused by the reciprocal translocation of chromosomes 9 and 22, which leads to a chimeric gene product known as BCR-ABL. Some studies have shown a higher incidence of secondary malignancies than the one seen in the general population in patients with CML. Hepatocellular carcinoma (HCC) is rarely reported in association with CML and/or CML-related treatment.
View Article and Find Full Text PDFObjectives: The coronavirus disease of 2019 (COVID-19) pandemic started by affecting the older age groups with comorbidities but gradually advanced to severely affect even young adults. This study attempts to clinically evaluate critically ill young and middle-aged adults hospitalized with COVID-19 and study the association of risk factors and the markers of inflammation and coagulation with their outcome.
Materials And Methods: A prospective observational study on 146 patients was conducted in a tertiary care hospital in Western India.
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.
View Article and Find Full Text PDFBACKGROUND 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.
View Article and Find Full Text PDFScedosporium, a widespread filamentous fungus found in diverse environments, has experienced a rise in cases due to escalating malignancies and chronic immunosuppression. Clinical manifestations span mycetoma, airway involvement, and various infections, with osteomyelitis being a notable complication. We present a case of a 77-year-old female initially displaying cutaneous Scedosporium signs, which progressed to osteomyelitis.
View Article and Find Full Text PDFBackground: Mycobacterium nebraskense is a rare, slow growing nontuberculous mycobacterium species with limited documented cases. This systematic review aims to comprehensively analyze the clinical characteristics, presentation, and management of M. nebraskense infections by analyzing the available literature, including a newly reported case that we present in this article.
View Article and Find Full Text PDFBackground 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.
View Article and Find Full Text PDFJ Assoc Physicians India
November 2022
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).
View Article and Find Full Text PDFJ Assoc Physicians India
February 2023
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.
View Article and Find Full Text PDFTrichobezoar 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.
View Article and Find Full Text PDFBackground 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.
View Article and Find Full Text PDFBackground 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.
View Article and Find Full Text PDFEmphysematous 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 and .
View Article and Find Full Text PDFRetroperitoneal 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.
View Article and Find Full Text PDFBackground 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.
View Article and Find Full Text PDFBackground 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.
View Article and Find Full Text PDFAtaxia 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.
View Article and Find Full Text PDFSturge-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.
View Article and Find Full Text PDFImportance: 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.