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Ocular toxicity of psychotropic medications in a tertiary hospital in Lagos, Nigeria.

Objective: This study aimed to determine the ocular toxicity of the psychotropic drugs used by patients and to proffer suggestions on how to prevent visual impairment or blindness in patients on antipsychotics. Methodology: This was a prospective, hospital-based cross-sectional study. Participants were adult patients between 18 and 70 years, diagnosed with psychosis, and who had been on antipsychotic medications for at least one year. All the recruited participants had an examination of the anterior and posterior segments of the eyes done. Schirmer's test, Tear film Break-up time (TBUT), Centr

Обычные педиатрические и подростковые кожные заболевания.

Повреждения кожи встречаются во всех областях медицины, и поэтому важно, чтобы врачи понимали основы объяснения и диагностики общих кожных условий. Эта статья начинается с описания и документирования повреждений кожи на основе цвета, размера, морфологии и распределения. Изображаются такие пигментационные расстройства, как витилиго. В педиатрическом и подростковом возрасте наблюдается резкий рост акрохордонов, дерматофибром, келоид, килиа, нейрофибромы и пиогенные грануломы. Лечение этих ростков, как правило, включает наблюдение или излечение электродессессией. Псориаз, атомный дерматит, ядовит

Совпадение в аннотации оригинала
Skin lesions are encountered in all areas of medicine, and it is therefore important for physicians to understand the fundamentals of explaining and diagnosing common skin conditions. This article begins with a discussion of description and documentation of skin lesions based on color, size, morphology, and distribution. Pigmentation disorders such as vitili…

Noninfectious Posterior Uveitides - Atypicals, Variants, and Masquerades: The Jungle of Differential Diagnosis.

PURPOSE: Consensus efforts by the Multimodal Imaging in Uveitis (MUV) Task Force have established standardized diagnostic criteria for the major non-infectious posterior and panuveitides (NIPUs), historically referred to as "white dot syndromes". Nevertheless, a substantial proportion of cases deviate from classical presentations and fall into diagnostic "grey zones", blurring boundaries between diseases entities and complicating both differential diagnosis and management. This paper aims to describe the broad spectrum of atypical, variant, and secondary forms of NIPUs as well as masquerade sy

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

ITCH (Itchy E3 Ubiquitin Protein Ligase) deficiency is an exceptionally rare autosomal recessive genetic disorder caused by alterations in the ITCH gene, leading to immunodeficiency and systemic autoimmunity. A 12-year-old Chilean girl presented with chronic malnutrition, short stature, dysmorphic features, global developmental delay, and intellectual disability. She had chronic lung damage, exocrine pancreatic insufficiency, immune-mediated diabetes mellitus, congenital hypothyroidism, and hypoparathyroidism. At 10 years, she experienced severe pneumonia, followed by recurrent respiratory inf

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.

PURPOSE OF REVIEW: Osteogenesis imperfecta or 'brittle bone disease' has mainly been considered a bone disorder caused by collagen mutations. Within the last decade, however, a surge of genetic discoveries has created a new paradigm for osteogenesis imperfecta as a collagen-related disorder, where most cases are due to autosomal dominant type I collagen defects, while rare, mostly recessive, forms are due to defects in genes whose protein products interact with collagen protein. This review is both timely and relevant in outlining the genesis, development, and future of this paradigm shift in

An Unusual Syndromic Presentation in Diabetes: Histiocytosis-Lymphadenopathy Plus Syndrome.

INTRODUCTION: Histiocytosis-lymphadenopathy plus syndrome is a rare autosomal recessive multisystemic disorder caused by mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3. This mutation has been linked to a group of syndromic histiocytoses including H-syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and familial Rosai-Dorfman disease. CASE DESCRIPTION: We report the case of an 18-year-old woman from an Arab country with no parental consanguinity who presented to our department with uncontrolled diabetes, repeated severe h

Co-delivery of glial cell-derived neurotrophic factor (GDNF) and tauroursodeoxycholic acid (TUDCA) from PLGA microspheres: potential combination therapy for retinal diseases.

Retinitis pigmentosa (RP) is a group of genetically diverse inherited disorders characterised by the progressive photoreceptors and pigment epithelial cell dysfunction leading to central vision impairment. Although important advances in the understanding of the pathophysiologic pathways involved in RP have been made, drug delivery for the treatment of ocular disorders affecting the posterior segment of the eye is still an unmet clinical need. In the present study, we describe the development of multi-loaded PLGA-microspheres (MSs) incorporating two neuroprotectants agents (glial cell-line-deri

Giraffe or leopard spot chorioretinopathy as an outstanding finding: case report and literature review.

PURPOSE: Presentation of two typical cases with characteristic leopard retinopathy secondary to bilateral diffuse uveal melanocytic proliferation (BDUMP) and idiopathic uveal effusion syndrome (IUES) and brief review of the literature about leopard spot retinopathy. CASE REPORT: A 43-year-old women, who was a known case of ovarian carcinoma, referred with gradual bilateral visual loss. In ophthalmic examination, subretinal fluid, multiple patchy subretinal hyperpigmented lesions and leopard spot chorioretinopathy were evident in her both eyes. Fluorescein angiography showed multiple nummular

Hydroxyurea associated with concomitant occurrence of diffuse longitudinal melanonychia and multiple squamous cell carcinomas in an elderly subject.

BACKGROUND: Hydroxyurea is a cytostatic agent used to treat myeloproliferative disorders and long-term treatment is associated with mucocutaneous adverse events and nail hyperpigmentation. OBJECTIVE: The purpose of this study was to report the concomitant occurrence of multiple squamous cell carcinomas and diffuse nail hyperpigmentation associated with hydroxyurea treatment, and to describe a successful therapeutic approach using imiquimod 5%. CASE SUMMARY: We report the case of an 81-year-old white man (weight, 82 kg; height, 173 cm; photodamaged type II skin) affected with cirrhosis of the

The definition and assessment of vitiligo: a consensus report of the Vitiligo European Task Force.

Vitiligo is the most common depigmenting disorder, which affects 0.5-1% of the worldwide population, causing disfigurement and serious disturbances in well being. There is a current lack of consensus in definition and methods of assessment of this disorder, which makes it generally impossible to compare the outcomes of different studies of the same treatment. This report summarizes the work carried out by the Vitiligo European Task Force to propose a consensus definition of the disease and to assess treatment outcomes using a system which combines analysis of extent, stage of disease (staging)

Severity in phenotypic expression of homozygous sickle cell disease (Hb.SS)--does hypermelanotic or hypomelanotic skin status of affected patients play a role?

Abnormal hemoglobin distribution on global map, of which hemoglobin S (Hb.S) accounted for about 80% of the disorders resulting from them are more prevalent in the tropics and sub-tropics. Homozygous sickle cell disease (Hb.SS) is the most common and most severe form of sickle cell disease (SCD) in phenotypic expression. The prevalence and severity in phenotypic expression of SCD had been noted to decrease farther away from the equatorial region, with prevalence rate of sickle cell trait of about 2% and less than 1% in North African coast and South Africa, respectively, compared to about 10-40

E.N.T. manifestations of Von Recklinghausen's disease.

Von Recklinghausen's Disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. Case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and

[Toxic effects of PCB/PCDF to human observed in Yusho and other poisonings].

Yusho PCB poisoning occurred in 1968, when the human environment had been polluted with PCBs and related compounds. The causal rice oil was contaminated with large amounts of PCBs and PCDFs by accidental leakage at the rice oil producing Kanemi Company on February 7-15, 1968. Much less concentrations of PCBs were identified in the rice oil produced and shipped from the Company before and after the critical days. Concentration trend of PCBs and TEQ in human body were examined for 40 years from 1968 to present. Concentrations in the blood of heavily exposed Yusho patients and normal Japanese wer

Development and Implementation of a Web-Based International Registry Dedicated to Atypical Pigmented Skin Lesions of the Face: Teledermatologic Investigation on Epidemiology and Risk Factors.

Background: Atypical pigmented facial lesions (aPFLs) often display clinical and dermoscopic equivocal and/or overlapping features, thus causing a challenging and delayed diagnosis and/or inappropriate excisions. No specific registry dedicated to aPFL paired with clinical data is available to date. Methods: The dataset is hosted on a specifically designed web platform. Each complete case was composed of the following data: (1) one dermoscopic picture; (2) one clinical picture; (3) two lesion data, that is, maximum diameter and facial location (e.g., orbital area/forehead/nose/cheek/chin/mouth)

Recognizing, Managing, and Guiding the Patient Through Complications in Facial Plastic Surgery.

Complications in facial plastic surgery can occur in both surgical and nonsurgical procedures. Many complications can be prevented through thorough preprocedural evaluation, patient counseling, and close postoperative monitoring. Despite the best efforts complications will happen and identifying them early is critical to prevent long-term sequelae. It is important to know how to both manage the complication and guide the patient through the recovery process.

Independent Origin of XY and ZW Sex Determination Mechanisms in Mosquitofish Sister Species.

Fish are known for the outstanding variety of their sex determination mechanisms and sex chromosome systems. The western (Gambusia affinis) and eastern mosquitofish (G. holbrooki) are sister species for which different sex determination mechanisms have been described: ZZ/ZW for G. affinis and XX/XY for G. holbrooki Here, we carried out restriction-site associated DNA (RAD-) and pool sequencing (Pool-seq) to characterize the sex chromosomes of both species. We found that the ZW chromosomes of G. affinis females and the XY chromosomes of G. holbrooki males correspond to different linkage groups,

[Griscelli syndrome type 3: A new case].

INTRODUCTION: Griscelli syndrome (GS) is a rare autosomal-recessive genetic disease characterized by hypopigmentation of skin and hair. We report a case of GS type 3 with late diagnosis. OBSERVATION: A 31-year-old female patient had presented depigmentation of the hair and eyebrows as well as diffuse skin hypopigmentation during childhood. Microscopic analysis of a hair shaft revealed irregularly distributed clumps of melanin. DNA sequencing showed a homozygous C103T (R35W) transition in exon 1 of MLPH, confirming Griscelli syndrome type 3. DISCUSSION: Three clinical phenotypes of GS have be