research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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research Reporting on Adverse Clinical Events
Monitoring for adverse effects in clinical treatments is crucial.
research Safety and tolerability of antiepileptic drugs in women with epilepsy (literature review and own data)
Some epilepsy drugs can cause reproductive and cosmetic side effects in women and affect pregnancy, but most women still have healthy babies.
research SAFETY AND TOLERABILITY OF ANTIEPILEPTIC DRUGS AT WOMEN WITH EPILEPSY (DATA OF SVT. LUKA’S INSTITUTE OF CHILD NEUROLOGY AND EPILEPSY)
Antiepileptic drugs can cause side effects like menstrual problems and infertility in women with epilepsy, but most pregnancies result in healthy babies, with newer drugs being safer.
research Granular Parakeratosis of the Eccrine Ostium: A Case Report
Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.
research Towards the Development of AgoKirs: New Pharmacological Activators to Study Kir2.x Channel and Target Cardiac Disease
New compounds may help treat heart disease by activating specific potassium channels.
research Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.
research Androgenic Effects on Ventricular Repolarization
ADT, especially enzalutamide, may increase the risk of heart rhythm problems and sudden death in men.
research Dermatologic adverse events in EGFR-TKIs: A real-world analysis.
EGFR-TKIs can cause unexpected skin, nail, and hair issues.
research Магний и железо как причина нарушения менструального цикла
Magnesium and iron deficiencies may cause menstrual cycle disorders.
research Adverse event reporting of four anti-Calcitonin gene-related peptide monoclonal antibodies for migraine prevention: a real-world study based on the FDA adverse event reporting system
These migraine prevention drugs can cause side effects like constipation, hair loss, injection site reactions, fatigue, and sometimes unexpected issues like Raynaud's phenomenon and weight gain.
research Effect of 150 kHz Electromagnetic Radiation on the Development of Polycystic Ovaries Induced by Estradiol Valerate in Sprague Dawley Rats.
150 kHz Electromagnetic Radiation seems to reduce the number and size of ovarian cysts in rats with PCOS, with minimal changes in developing follicles.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Histopathologic features of erythematous papulopustular eruption to epidermal growth factor receptor inhibitors in cancer patients
Erythematous papulopustular eruptions in cancer patients using EGFR inhibitors show specific skin changes that vary with severity and treatment type.
research [Adverse effects of valproic acid in epileptic infants and adolescents].
Valproic acid can cause mild side effects like anorexia and hair loss in some epileptic patients.
research Valproic acid – induced Pleuro-pericardial Effusion
Valproic acid can rarely cause fluid buildup around the lungs and heart.
research Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Ectopic acanthosis nigricans at a post-syndactyly surgical site: An unusual reactive epidermal phenomenon
Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
research Contaminants of emerging concern in the fetal environment
Fetal environments contain various chemicals that may disrupt hormones.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Association of severity of menstrual dysfunction with cardiometabolic risk markers among women with polycystic ovary syndrome
Severe menstrual issues in PCOS women signal higher risk for heart and metabolic problems.
research Misdiagnosis of eosinophilic cystitis: A case report and literature review
Eosinophilic cystitis is often misdiagnosed, but accurate diagnosis and treatment improve outcomes.
research Dynamic characteristics of cerebrovascular reactivity or ventilatory response to change in carbon dioxide
Traditional methods may not fully capture how the brain and breathing systems respond to carbon dioxide changes.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Catamenial-like seizure exacerbation in mice with targeted ablation of extrasynaptic δGABA-a receptors in the brain
Removing certain brain receptors in mice worsens seizure severity and response to treatment during hormone withdrawal.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.