Galactokinase deficiency: a treatable cause of bilateral cataracts

2021 ◽  
Vol 14 (6) ◽  
pp. e242227
Author(s):  
Catarina Cordeiro ◽  
Paula Garcia ◽  
Dalila Coelho ◽  
Mónica Oliva
Keyword(s):  
Differential Diagnosis ◽  
Family History ◽  
Physical Examination ◽  
Congenital Cataract ◽  
Genetic Variant ◽  
Metabolic Diseases ◽  
Systemic Diseases ◽  
Galactose Metabolism ◽  
Biochemical Studies ◽  
History Of

Congenital cataract can be caused by several systemic diseases and differential diagnosis should be done between infections, genetic or metabolic diseases. We present a case of a 12-month-old girl with bilateral nuclear cataracts that was referred for investigation. Since she did not present a family history of congenital cataracts or metabolic diseases, and her physical examination was normal, a systemic evaluation was performed. Biochemical studies disclosed abnormal galactose metabolism signs. The diagnosis of galactokinase (GALK1) deficiency was considered and the study of the GALK1 gene allowed identifying a pathogenic genetic variant and a predictably pathogenic missense mutation, previously not described. Dietary measures were imposed with a good evolution.

Prevalence of Hip Ultrasound Abnormalities in Newborns With a Hip Click

2020 ◽  
Vol 59 (8) ◽  
pp. 773-777
Author(s):  
John T. Gaffney ◽  
John Spellman
Keyword(s):  
Family History ◽  
Confidence Interval ◽  
Physical Examination ◽  
Prospective Studies ◽  
Hip Dysplasia ◽  
Developmental Dysplasia ◽  
Inclusion Criteria ◽  
History Of ◽  
Hip Ultrasound ◽  
Dysplasia Of The Hip

A hip click on examination of the newborn hip is believed to be the result of a ligament or myofascial structure and thought to be benign. Some studies suggest a link between hip clicks and developmental dysplasia of the hip. The purpose of our study is to estimate the prevalence of ultrasound hip abnormalities in newborns with a hip click and an otherwise normal physical examination. Results. Ninety patients meeting inclusion criteria of a hip click with an otherwise normal physical examination underwent diagnostic ultrasound with a 17.8% prevalence of hip abnormalities found (95% confidence interval ±7.9% [range of 9.9% to 25.7%]). Our study had 64 (71%) females and 26 (29%) males. The prevalence of hip pathology for females was 18.8% (12 of 64 patients) and for males was 15.4% (4 of 26 patients). Thirty-three patients were found to have bilateral hip clicks on presentation, with 21.2% (7 of 33) of those patients found to have hip pathology on ultrasound (3 of the 7 had pathology of both hips). Six patients had a family history of hip dysplasia and 1 of these patients (16.7%) had pathology on ultrasound. The average age to hip sonography was 6.6 weeks. Conclusions. In all, 17.8% of newborns with a hip click were found to have hip abnormalities on ultrasound. The prevalence of hip pathology, on ultrasound, suggests that additional larger, prospective studies are needed to clarify the association between a hip click and abnormal ultrasound found at 6 weeks of age or greater.

scholarly journals CYSTIC FIBROSIS OF THE PANCREAS

1969 ◽  
Vol 129 (4) ◽  
pp. 775-793 ◽  
Author(s):  
B. Shannon Danes ◽  
Alexander G. Bearn
Keyword(s):  
Cystic Fibrosis ◽  
Cell Culture ◽  
Family History ◽  
Inborn Error ◽  
Skin Fibroblast ◽  
Inborn Error Of Metabolism ◽  
Fibroblast Cultures ◽  
Biochemical Studies ◽  
History Of ◽  
Heterozygous Carriers

103 individuals from 16 families with cystic fibrosis and 87 individuals without family history of cystic fibrosis have been studied using the methods of cell culture. Skin fibroblast cultures derived from 19 affected children, and fibroblast cultures from 11 different organs obtained at autopsy from two affected children, showed cellular metachromasia. The morphological appearance and the intracellular mucopolysaccharide content enabled these cultures to be divided into two distinct classes. Class I had discrete cytoplasmic metachromatic vesicles and a mucopolysaccharide content similar to that observed in normal fibroblasts. In class II the metachromasia was present in both vesicles and granules and was evenly distributed throughout the cytoplasm. The mucopolysaccharide content of these cells was markedly increased. The cultures derived from the parents, presumed heterozygotes, and other members of each family showed cells with the same type of metachromasia as that demonstrated by the propositus. These data strongly suggest that cystic fibrosis is not a homogeneous entity and, moreover, can be caused by homozygosity of genes at two distinct loci. The recognition of cytoplasmic abnormalities in skin fibroblasts derived from affected individuals and heterozygous carriers for cystic fibrosis should facilitate genetic and biochemical studies on the heterogeneity of this inborn error of metabolism.

scholarly journals Deteksi Dini Peningkatan Glukosa Dalam Darah di RW 07 Kelurahan Pekayon, Pasar Rebo

2020 ◽  
Vol 2 (1) ◽  
pp. 39
Author(s):  
Dwi Agustina
Keyword(s):  
Diabetes Mellitus ◽  
Blood Glucose ◽  
Family History ◽  
Early Detection ◽  
Blood Glucose Level ◽  
Glucose Level ◽  
Metabolic Diseases ◽  
Family History Of Diabetes ◽  
The People ◽  
History Of

Diabetes Mellitus is one of the chronic illness. DM is metabolic diseases with characteristic hyperglycemia that occur di to abnormal insulin secretion, insulin performance or both (ADA, 2010). Depend on PERKENI (2011), complication of DM occur from uncontrolled blood glucose level, such as neuropathy, hypertension, coronary heart disease, retinopathy, nephropathy and gangrene. The people who have high risk of DM are high-carbohydrate diets, have a family history of diabetes Mellitus. there for we need to early detection to be prevention became Diabetes Mellitus disease. Early detection of activities of patients with DM are held at RW 07 due to DM risk faktor that occur in that area. Community Service Activities were carried out on Wednesday, March 23, 2016 at the RW 07 Pekayon village meeting hall. Activities include measuring glucose level and counseling. For the results of early detection blood glucose level, it was found that 56 out of 82 residents experienced and increase in blood glucose level (68%). Most of them carry out consultations related to diet and Diabetes Mellitus family history

scholarly journals Does Family History of Obesity, Cardiovascular, and Metabolic Diseases Influence Onset and Severity of Childhood Obesity?

2018 ◽  
Vol 9 ◽  
Author(s):  
Domenico Corica ◽  
Tommaso Aversa ◽  
Mariella Valenzise ◽  
Maria Francesca Messina ◽  
Angela Alibrandi ◽  
...  
Keyword(s):  
Childhood Obesity ◽  
Family History ◽  
Metabolic Diseases ◽  
History Of ◽  
History Of Obesity

Exploring the link between work and health

2017 ◽  
Vol 10 (2) ◽  
pp. 153-163 ◽  
Author(s):  
Shahnaz Aziz ◽  
Karl Wuensch ◽  
Saame Raza Shaikh
Keyword(s):  
Family History ◽  
Online Survey ◽  
Metabolic Diseases ◽  
Health Issues ◽  
Content Type ◽  
Work Related ◽  
Health Related ◽  
History Of ◽  
The Relationship ◽  
Practical Implications

Purpose The purpose of this paper is to examine if facets of workaholism are associated with a family history of metabolic diseases. Design/methodology/approach Data on workaholism and family history of health issues were collected, through administration of an online survey, from 194 employees. Findings Workaholism significantly related to a family history of metabolic diseases. Research limitations/implications Future researchers should collect objective disease data, examine work-related moderators as well as potential mediators, and implement longitudinal designs with much larger samples. That said, the data reveal a correlation between workaholism and family history of metabolic disease. Practical implications The results provide valuable information to help promote a healthy workforce and to improve employees’ health by reducing workaholic tendencies. They could also help to minimize health-related costs associated with metabolic diseases that could develop in parallel with workaholism, as well as costs in terms of a loss in productivity due absenteeism. Originality/value It is, the authors believe, the first study to investigate the relationship between facets of workaholism and family history of health issues that have often been associated with metabolic diseases.

scholarly journals STUDI KARAKTERISTIK PASIEN TUBERKULOSIS DI PUSKESMAS SEBERANG ULU 1 PALEMBANG

2017 ◽  
Vol 6 (4) ◽  
pp. 218-224
Author(s):  
Zata Ismah ◽  
Emma Novita
Keyword(s):  
Health Status ◽  
Family History ◽  
Physical Examination ◽  
Cross Sectional Study ◽  
Male Gender ◽  
Age Group ◽  
Sectional Study ◽  
Cross Sectional ◽  
Low Socioeconomic ◽  
History Of

Abstrak Analisis karakteristik penderita TB selain berguna untuk pengobatan juga berguna dalam memudahkan penemukan tersangka TB. Penelitian ini bertujuan untuk menganalisis karakteristik penderita TB. Desain studi yang digunakan adalah crossectional dengan sampel sebanyak 40 pasien TB yang berobat 3 bulan terakhir di Puskesmas Seberang Ulu 1 Palembang. Pengumpulan data dilakukan dengan kunjungan rumah ke pasien lalu dilakukan wawancara serta pemeriksaan fisik dan status kesehatan.  Hasil penelitian didapatkan bahwa karakteristik penderita TB paling banyak pada kelompok : usia produktif usia 12 – 35 tahun  dan  rentang usia dewasa 49 -  61 tahun; jenis kelamin laki-laki; pendidikan sekolah tingkat dasar; pekerjaan buruh; sosial ekonomi rendah; perokok aktif. Ditemukan 13.2% pasien TB dengan DM, 45% pasien TB dengan hipertensi, 47.5% pasien TB dengan anemia, 55% pasien TB dengan gizi kurang, 17.5% pasien memiliki riwayat keluarga menderita TB. Pasien kambuh sebanyak 12.5%; pasien yang putus OAT 17.5%; serta ditemukan tidak minum OAT sebanyak 15%.   Kata kunci: Karakteristik, Deskriptif, Tuberkulosis,                            Abstracts Analysis of characteristics TB disease besides useful for treatment is also useful to finding TB cases. This study aims to analyze characteristic of TB patients. This research used cross sectional study design with 40 TB patients treated last 3 months at Puskesmas Seberang Ulu 1 Palembang. Data collection was done with patient home visits, interview, physical examination health status. The results was most of characteristic TB patients in productive age group, maximum age 35 years, male gender, primary education, occupation was coolie, low socioeconomic, active smokers. TB Patients was founded 13.2% with DM; 45% TB patients with hypertension; 47.5% TB patients with anemia; 55% TB patients with malnutrition; 17.5% of patients had a family history of TB. Patients relapsed were 12.5%; OAT dropout patients were founded 17.5%; 15% patients were not OAT.   Keywords: Characteristics, Descriptive, Tuberculosis

scholarly journals Punctate Palmoplantar Keratoderma

2021 ◽  
Author(s):  
Susana Cláudia Teixeira ◽  
André Coelho Almeida ◽  
Joana Carvalho ◽  
Paulo Morais
Keyword(s):  
Family History ◽  
Physical Examination ◽  
Skin Biopsy ◽  
Positive Family History ◽  
Clinical Aspect ◽  
Palmoplantar Keratoderma ◽  
Dermatology Department ◽  
Maternal Grandfather ◽  
Palmoplantar Hyperkeratosis ◽  
History Of

A 5-year-old caucasian boy, born of non-consanguineous parents, was referred to the dermatology department due to palmar hiperlinearity and multiple 2-3 mm hyperkeratotic circular lesions in the soles (Fig. 1). The remaining physical examination was unremarkable. There was a family history of palmoplantar hyperkeratosis in the mother and maternal grandfather. To spare the child, a punch skin biopsy was taken from his mother. Pathology revealed an epidermis with irregular acanthosis and orthokeratotic hyperkeratosis, without other morphologic alterations (Fig. 2). Clinical aspect of the lesions associated with a positive family history and histologic findings allowed the diagnosis of punctate palmoplantar keratoderma. Satisfactory results were achieved with urea 20% cream and emollient applied to the soles. [...]

Endoscopic removal of ectopic dentition in ethmoid sinus

2021 ◽  
Vol 14 (2) ◽  
pp. e237858
Author(s):  
Amy SM Wong ◽  
Jagdeep S Virk ◽  
Matthew J R Magarey
Keyword(s):  
Differential Diagnosis ◽  
Physical Examination ◽  
Paranasal Sinuses ◽  
Ethmoid Sinus ◽  
Middle Meatus ◽  
Endoscopic Removal ◽  
Dental Implantation ◽  
Unerupted Tooth ◽  
History Of ◽  
The Right

A 66-year-old woman presented with a 6-month history of unilateral right nasal obstruction and rhinorrhoea not responding to medical therapy. She had a history of dental implantation for an unerupted tooth on the right side 3 years ago. Physical examination including flexible nasendoscopy demonstrated yellow debris in the right middle meatus. CT paranasal sinuses demonstrated a radiopaque lesion in the right anterior ethmoid sinus and resembled the unerupted tooth. The tooth was removed endoscopically from the right nasal cavity without complications. This case highlights the importance of eliciting an accurate dental history and considering ectopic dentition as a differential diagnosis in a patient with unilateral symptoms of sinusitis.

Cutaneous Rosai–Dorfman disease: a challenging diagnosis

2021 ◽  
Vol 14 (2) ◽  
pp. e239244
Author(s):  
Rita Sampaio ◽  
Leandro Silva ◽  
Goreti Catorze ◽  
Isabel Viana
Keyword(s):  
Weight Loss ◽  
Differential Diagnosis ◽  
Physical Examination ◽  
Plasma Cells ◽  
Oral Prednisolone ◽  
Inflammatory Cells ◽  
Rosai Dorfman Disease ◽  
History Of ◽  
Nodular Lesions ◽  
Proliferative Disease

Rosai–Dorfman disease is a rare benign histiocytic proliferative disease of unknown cause that, in exceptional cases, presents with lesions confined to the skin. Clinically variable types of lesions such as papules, nodules and plaques have been reported. We present a case of a 27-year-old woman with a 1-year history of erythematous papular and nodular lesions on the malar and right axillary regions, previously misdiagnosed as acne. She reported no fever, malaise or weight loss, while physical examination and laboratory workup were normal. Bacteriological and mycobacteriological cultures were negative. Histopathological findings showed dense infiltration of inflammatory cells involving the entire dermis, consisting of large macrophages with emperipolesis, S100 and CD68 positive, neutrophils, eosinophils, lymphocytes and plasma cells. The patient was treated with oral prednisolone without improvement. Dapsone was subsequently initiated with favourable clinical response. The present article aimed to emphasise the clinical and histological differential diagnosis and share the treatment experience.

Waardenburg's Syndrome: Variations in Expressivity

1981 ◽  
Vol 89 (4) ◽  
pp. 666-670 ◽  
Author(s):  
Louis Wang ◽  
Collin S. Karmody ◽  
Hermine Pashayan
Keyword(s):  
Family History ◽  
Physical Examination ◽  
Phenotypic Expression ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
History Of

Twenty-seven subjects with a family history of Waardenburg's syndrome were examined with respect to 18 specific characteristics of the syndrome, with particular emphasis in identifying the spectrum of the phenotypic expression of affected persons. Our results indicate that patients with the syndrome may have a variety of clinical signs, and an accurate diagnosis will therefore depend on a thorough and pertinent family history and physical examination.

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