Precision medicine in peripartum cardiomyopathy: advancing diagnosis and management through genomic and phenotypic integration.

Peripartum cardiomyopathy (PPCM) is a rare and life-threatening cardiac condition characterized by heart failure due to left ventricular systolic dysfunction, often developing in late pregnancy or the early postpartum period. Despite being a leading cause of maternal morbidity and mortality, clinical presentation of PPCM frequently overlaps with normal pregnancy-related physiological changes, causing diagnostic delays and increased complications. Current management strategies, primarily derived from general heart failure protocols, are evolving to address the unique aspects of PPCM. This includes the development of personalized medicine approaches that integrate genetic profiling, biomarker evaluation, and clinical phenotyping. Notable genes such as titin (TTN), Bcl2-associated athanogene 3 (BAG3), and lamin A/C (LMNA) are implicated in PPCM, revealing a complex genetic landscape similar to other cardiomyopathies. Biomarkers like N-terminal pro-brain-type natriuretic peptide (NT-proBNP) and cardiac troponin T (cTnT) are under investigation for their diagnostic and prognostic value, indicating that personalized treatments hold the promise of enhancing diagnostic precision and therapeutic outcomes by tailoring interventions to individual patient profiles. This review article aims to highlight how integrating genetic and phenotypic data can establish a novel framework for managing PPCM, potentially transforming treatment paradigms and improving long-term outcomes.

Unveiling Pakistan's transport problems: a call to safeguard public health.

Public transportation is an important mode of transportation in developing countries like Pakistan since it is accessible and convenient. But there are also serious health hazards associated with it, especially when it comes to the transmission of infectious diseases including COVID-19, TB, and Haemophilus influenzae. Worldwide transportation systems are vulnerable, as the COVID-19 pandemic has shown, underscoring the necessity for study and mitigating measures. The danger of disease transmission is increased in Pakistan by crowded metropolitan areas, inadequate sanitation, and low health awareness. In addition, congested public transportation and inadequate ventilation lead to reduced air quality and elevated stress levels among commuters. Comprehensive actions are needed to address these health hazards, such as promoting physical distance, improving cleanliness, enforcing traffic safety laws, and implementing policy changes that support sustainable transportation. Community involvement and advocacy are critical in campaigning for safer and more sustainable transportation networks. Pakistan can enhance public health outcomes and reduce the health hazards linked to public transportation by giving priority to these measures.

Co-occurrence of Guillain-Barre syndrome and rheumatoid arthritis in a young female: A case report from a low middle-income country.

Key Clinical Message: We present the case of an adult female who had rheumatoid arthritis at first but later tested positive for Guillain-Barré syndrome (GBS). In symptomatic GBS patients (related to large joints), physicians (and therapists) should consider rheumatoid arthritis when risk factors are present. Abstract: The co-existence of GBS and other autoimmune disorders is uncommon. We present the case of an adult female who had rheumatoid arthritis at first but later tested positive for GBS. Further details are provided regarding the interdisciplinary diagnostic and therapy strategy that led to the patient's complete recovery. An adult female patient with rheumatoid arthritis presented with progressive weakness in her lower limbs, affecting her arm and causing numbness in her left hand and bilateral lower limbs. She has not passed stool for the last 2 days and has experienced gastroenteritis with watery, profuse diarrhea. On admission, the patient was awake, alert, and able to communicate. She had a thorough history of vital signs, with no signs of dehydration, jaundice, pallor, or edema. The patient's lower limbs were hypotonic and her upper limbs were normal. She experienced loss of sensation in her lower limbs, vibration, and proprioception. The patient's EMG-NCS report indicated sensory and motor axonal neuropathy (AMSAN variant). Plasmapheresis sessions were finished in our patient, and a very good result was achieved. In symptomatic GBS patients (related to large joints), physicians (and therapists) should consider rheumatoid arthritis when risk factors are present. Appropriate clinical treatment, which includes prompt evaluation of alternate diagnoses in the case of therapeutic failure, can improve patient outcomes.

Postoperative radiotherapy for high-grade primary cardiac spindle cell sarcoma: a rare entity.

A patient in her early 20s presented with blood-stained sputum and shortness of breath. Initially, she was treated for pneumonia. Later, upon exacerbation of symptoms, further investigations were done which exhibited a left atrial mass causing compression of contralateral atrium. She underwent surgical resection of the mass, which was initially mistaken as myxoma. However, histopathological correlation revealed spindle cell sarcoma with focal myogenic differentiation. This case report highlights the role of Radiation Therapy in adjuvant setting with promising impact on improving local control after R2 resection. Cardiac spindle cell sarcoma, being one of the rarest cardiac tumours reported to date, warrants establishment of a Rare Tumour Multidisciplinary Team for management of such malignancies.

Betamethasone cream to treat diapers rash causing Cushing syndrome.

OBJECTIVES: Betamethasone causing iatrogenic Cushing's syndrome (CS) in infants are rarely reported. CASE PRESENTATION: In this case report, there were severe signs of CS, such as considerable weight acceleration and concurrent height deceleration, hirsutism and ecchymosis of the face, and buffalo pad, which are often found in adults. Clobetasol propionate, diflucortolone valerate, and dexamethasone nasal sprays were used in the majority of previously reported cases of corticosteroid abuse, whereas this is the first case of CS in an infant as a result of the use of betamethasone cream, also known as betnesol, which is frequently used by mothers in developing countries as a treatment for rashes. In this instance, a severe medication interaction caused by systemic betamethasone cream buildup led to the creation of CS. For the professionals, these patients are a challenge because of drug use without prescription. CONCLUSIONS: Topical corticosteroid usage puts infants at risk for CS. Because of excessive betamethasone treatment in this child with diaper dermatitis, he acquired CS. It is said to draw attention to the risks of self-medication in developing nations.

Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Renal Vasculitis After COVID-19 Infection: A Case Report.

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a class of autoimmune diseases that can cause kidney failure because of mononuclear cell infiltration and the destruction of small and medium-sized blood vessels. Coronavirus disease 2019 (COVID-19) may trigger or exacerbate autoimmune diseases. We present a case of ANCA-associated vasculitis in a patient with rheumatoid arthritis after a COVID-19 infection, who presented with intermittent hemoptysis and dyspnea and was diagnosed with COVID-19 pneumonia three weeks ago. Her clinical, radiological, and serological picture was concerned with pulmonary-renal syndrome. Her serum was positive for antinuclear antibody and ANCAs, and renal biopsy showed pauci-immune crescentic glomerulonephritis. She was diagnosed clinicopathologically with pauci-immune glomerulonephritis in the setting of rheumatoid arthritis (RA) after a COVID-19 infection. Her condition improved after she was treated with rituximab and pulse dose methylprednisolone.

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

INTRODUCTION: Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbß3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT patients from highly consanguineous Pakistani population. METHODS: This study analyzed the clinical and molecular spectrum of six GT patients from four unrelated but consanguineous families. Platelet surface expression of αIIbß3 integrin was determined using flow cytometry analysis. ITGA2B and ITGB3 genes were screened for causative mutations by DNA sequencing. Detected mutations were characterized for their pathogenicity using a variety of in silico tools. RESULTS: Glanzmann thrombasthenia patients in this study generally presented early in life, had a severe course of clinical disease with transfusion dependency for management of bleeding episodes. Molecular analysis revealed 2 homozygous missense mutations in ITGB3 gene, c.422 A˃G (p.Y141C) in three GT patients from a single pedigree with familial segregation and c.1641 C>G (p.C547W) in three unrelated GT patients from three families manifesting type I GT with severe reduction in platelet αIIbß3 levels. In silico pathogenicity predictions, multiple sequence alignment and 3D protein modeling unanimously suggested deleterious nature of the detected mutations, possibly due to aberrant disulfide bonding. Of note, clinical diversity was observed even among GT patients with same mutation in GT1 family. CONCLUSION: This study provides an initial yet important account of clinical and genetic characterization of GT in local patients which may spark further studies to help molecular diagnosis, optimal disease management, and genetic counseling based prevention efforts.