scholarly journals Familial Florid Cemento-Osseous Dysplasia: A Rare Manifestation in an Indian Family

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Adit Srivastava ◽  
Rahul Agarwal ◽  
Romesh Soni ◽  
Avesh Sachan ◽  
G. C. Shivakumar ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Phenotypic Expression ◽  
Age Group ◽  
Maxillofacial Region ◽  
Indian Family ◽  
Familial Cases ◽  
Osseous Dysplasia ◽  
Rare Manifestation ◽  
Mode Of Transmission

Florid cemento-osseous dysplasia (FCOD) is one of the uncommon dysplasias affecting the maxillofacial region. The age group may vary from 19 to 76 years and typically presents in the 4th and 5th decades. In most cases patients do not have hereditary basis of disease, and only a few familial cases have been documented. As far as we know this is the 1st reported case of familial FCOD in an Indian family. The mother and son exhibited multiple sclerotic masses in both jaws. The mode of transmission appeared to be autosomal dominant with variable phenotypic expression.

scholarly journals Pseudohypoparathyroidism-Ib due to novel heterozygous stop gain mutation in exon 8 of STX16 gene: A case report

2021 ◽  
Vol 1 ◽  
pp. 26-29
Author(s):  
Abhishek J. Kulkarni ◽  
Poorvi Chandraprakash Agrawal ◽  
Aditi Shah ◽  
Oneza Kothawala
Keyword(s):  
Autosomal Dominant ◽  
Thyroid Stimulating Hormone ◽  
Age Group ◽  
Familial Cases ◽  
Pediatric Age Group ◽  
Site Of Action ◽  
Renal Action ◽  
Symptomatic Hypocalcemia ◽  
Renal Tubular ◽  
Methylation Defects

We report a case of pseudohypoparathyroidism type 1b (PHP1b) manifesting in childhood with hypocalcemic seizures. Symptomatic hypocalcemia is a common emergency in the pediatric age group with vitamin D deficiency being a frequent underlying etiology and PHP is rare. Patients with PHP1b do not depict the Albright’s hereditary osteodystrophy (AHO) phenotype typical of patients with PHP1a and pseudopseudohypoparathyroidism (PPHP). The resistance to parathyroid hormone (PTH) is documented mostly at renal tubular site of action in patients with PHP1b. Hypothyroidism is reported occasionally, signifying resistance to thyroid-stimulating hormone (TSH). Individuals with autosomal dominant and maternally inherited form of PHP harbor methylation defects at GNAS exon A/B, while sporadic and non-familial cases harbor methylation defects at other locus sites, including differentially methylated regions (GNAS-DMR). A novel heterozygous stop gain mutation c.C910T/p.Arg304X in exon 8 of the STX16 gene (Syntaxin 16) was observed in our case. Resistance seems limited to the renal action of PTH alone as currently, TSH level is normal. Maternal STX16 gene analysis results confirmed the modality of inheritance.

Antiticiombin III Deficiency In A Large Family with 41 Affected Members

1981 ◽  
Author(s):  
J Stibbe ◽  
S Adhin ◽  
G L Ong ◽  
R S Panday ◽  
S H Peters ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Large Family ◽  
Clinical Information ◽  
Impedance Plethysmography ◽  
Age Group ◽  
Oral Contraceptive Pills ◽  
Contraceptive Pills ◽  
At Iii ◽  
L 51 ◽  
First Time

Hereditary Antithrombin III (AT III) deficiency was found in a large Hindustani family, living partly in the Netherlands, partly in Suriname. Of 201 members investigated 35 were found to affected: AT III activity (chromogenic substrate) and AT III antigen (immuno-electrophoresis according to Laurell) were about 45 %. Analysis of this fanily clearly demonstrated the autosomal dominant inheritance of the condition. Six non-investigated members (1 living, 5 non-living) were diagnosed as being affected on the basis of affected offspring.Seventeen affected members had no signs of thrombo-embolic(TE) processes (age group 0-10 years old, n=2; 11-20, n=5; 21-30, n=4; 31-40, n=4; 41-50, n=2). Thirteen showed clinical or proven signs of TE processes (first time in age group 0-10 years old, n=0; 11-20, n=l; 21-30, n=G; 31-40, n=4; 41-50,n=l; 51-60, n=0; 61-70, n=l). No clinical information is yet available on the remaining affected members. Deep venous thrombosis (DVT) occurred in 9 patients (age group 21-30, n=5; 31-40, n=3; 61-70, n=l). Triggering factors were none 4, surgery 1, oral contraceptives and preg- nancy4. Pulmonary embolism occurred in 6 patients (2 clinical, 4 proven) and was fatal in 4; ages were 19, 21, 26, 37, 48 and 68 years old. Pregnancy was uncomplicated in 3 women (total of 4 pregnancies), one of these women was treated prophylactically with anticoagulants during pregnancy (1 pregnancy). Two women (9 pregnancies) had a thrombotic episode (1st and 3rd pregnancy respectively) and 1 woman died suddenly 7 days after her 7th childbirth. DVT occurred in 2 of 4 women who used oral contraceptive pills.In some symptomless patients (age 22, 26, 32, 33, 40 years old) impedance plethysmography (n=5), 125I-fibrinogen leg scanning (n=3), 125I-fibrinogen T½(n=3) and 51C-platelet survival (n=l) were normal

scholarly journals COVID-19 Community Transmission among Healthcare Workers at a Tertiary Care Cardiac Center

2021 ◽  
Vol 9 (3) ◽  
pp. 49
Author(s):  
Mazin Barry ◽  
Asirvatham Alwin Robert ◽  
Mohamad-Hani Temsah ◽  
Syed Abdul Bari ◽  
Muhammad Yasin Akhtar ◽  
...  
Keyword(s):  
Healthcare Workers ◽  
Tertiary Care ◽  
Transmission Risk ◽  
Mitigation Measures ◽  
Age Group ◽  
Community Transmission ◽  
Mode Of Transmission ◽  
Healthcare Associated ◽  
Female Nurses ◽  
Cardiac Center

Aim: To determine the frequency, mode of transmission, and outcome of Coronavirus Disease 2019 (COVID-19) among healthcare workers (HCWs) in a tertiary care cardiac center in the Kingdom of Saudi Arabia (KSA). Methods: This is a retrospective study of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infected HCWs and was conducted from 2 March to 31 December 2020. Data related to the presence of COVID-19 symptoms, mode of transmission, hospitalization, and mortality were collected from the patients’ medical records. Results: Of the 4462 patients tested for COVID-19 by real-time reverse transcriptase polymerase chain reaction (RT-PCR), 203 (4.5%) HCWs were positive; of these, 125 (61.6%) were males, and the most common age group was <40 years. The most commonly encountered health professionals were nurses (74, 36.4%), followed by therapists/technicians (48, 23.6%), housekeepers (25, 12.3%), and physicians (21, 10.4%). The majority (184, 90.6%) of the HCWs contracted COVID-19 in the community, and only 19 (9.4%) were healthcare-associated infections. Of the infected HCWs, 169 (83.3%) had mild symptoms and were managed in home isolation. The most common symptoms were fever (128, 63.1%), body ache (124, 61.8%), headache (113, 55.7%), dry cough (123, 60.6%), sore throat (97, 47.8%), body weakness (97, 47.8%), and fatigue (94, 46.3%). Comparing males and females, there was a significantly higher number of female nurses; in contrast, there was a higher number of male physicians, housekeepers, therapists/technicians, and other specialty HCWs. A significantly lower number of nurses, therapists/technicians were infected in the ≥40 years age group compared to <40 years. Furthermore, a significantly higher difference was observed among non-Saudi nurses compared to Saudi nurses. No mortality was documented among the included HCWs. Conclusions: In the largest tertiary cardiac center in KSA, most HCWs who contracted COVID-19 developed mild symptoms; nurses and those aged <40 years were most commonly infected, and most infections were acquired in the community. HCWs’ adherence to mitigation measures outside of the workplace is vital to curb the current pandemic and decrease nosocomial transmission risk.

Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family

2010 ◽  
Vol 90 (3) ◽  
pp. 357-358 ◽  
Author(s):  
Dilip K. Patel ◽  
Siris Patel ◽  
Ranjeet S. Mashon ◽  
Preetinanda M. Dash ◽  
Malay B. Mukherjee
Keyword(s):  
Sickle Cell ◽  
Phenotypic Expression ◽  
Indian Family ◽  
Hemoglobin C

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

2013 ◽  
Vol 227 (2) ◽  
pp. 342-348 ◽  
Author(s):  
Stefano Bertolini ◽  
Livia Pisciotta ◽  
Claudio Rabacchi ◽  
Angelo B. Cefalù ◽  
Davide Noto ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Phenotypic Expression

The Knowledge, Attitude and Practices Regarding HBV Infection of Married Women in the Reproductive Age Group living in Different Districts of Bangladesh

1970 ◽  
Vol 22 (1) ◽  
pp. 29-31 ◽  
Author(s):  
Md Atiqur Rahman ◽  
Sultana Rokeya Mannan
Keyword(s):  
Hepatitis B ◽  
Public Awareness ◽  
Group Living ◽  
Married Women ◽  
Hbv Infection ◽  
Reproductive Age ◽  
Age Group ◽  
Immunization Programme ◽  
Mode Of Transmission ◽  
Reproductive Age Group

The present study was conducted to know the knowledge, attitude and practices of 300 married women in the reproductive age group living in different districts of Bangladesh, regarding HBV infection. Only 20% of the women were found aware of the mode of transmission of HBV. However, 50% of the women were having the misconceptions regarding mode of transmission of HBV. 4% of women, 30% of children up to 5 years and 15% of children above 5 years were fully immunized with hepatitis B vaccine. 80% of children up to 5 years and 75% of children above 5 years were fully immunized as per universal immunization programme. Hence, the results of the study clearly indicated the low immunization rate with vaccine against HBV under universal immunization programme and this further potentiated the need to grow public awareness about vaccination against Hepatitis B by focusing the beneficial effect of early immunization through public electronic media. Key words: KAP; HBV; Immunization; Perinatal transmission DOI: 10.3329/medtoday.v22i1.5602 Medicine Today Vol.22(1) 2010. 29-31

FAMILIAL THYROXINE-BINDING GLOBULIN DEFICIENCY IN ASSOCIATION WITH NON-TOXIC GOITRE

1979 ◽  
Vol 91 (1) ◽  
pp. 70-76 ◽  
Author(s):  
Paul Bratusch-Marrain ◽  
Hannes Haydl ◽  
Werner Waldhäusl ◽  
Robert Dudczak ◽  
Wolfgang Graninger
Keyword(s):  
Clinical Evidence ◽  
Autosomal Dominant ◽  
Serum Concentrations ◽  
Dominant Inheritance ◽  
Normal Range ◽  
Thyroxine Binding Globulin ◽  
The Family ◽  
High Incidence ◽  
Total Thyroxine ◽  
Mode Of Transmission

ABSTRACT A kindred is presented in which 4 members in 3 generations showed absent or reduced serum concentrations of thyroxine-binding globulin (TBG). TBG was undetectable by radioimmunoassay in one male and decreased to varying extent in 3 female patients (4.0, 4.2 and 8.6 μg/ml; normal range 12.5–26.0 μg/ml). Total thyroxine serum concentrations in the affected subjects were well in the hypothyroid range without clinical evidence of hypothyroidism. The mode of transmission of the trait was consistent with X-chromosome linkage. A high incidence of non-toxic goitre was also present in most of the family members examined irrespective of TBG levels. The transmission of the goitre trait was compatible with autosomal dominant inheritance. Thus its association with transmission of TBG deficiency was interpreted as not causal but coincidental.

scholarly journals A cross preseptal and postseptal gonococcal orbital cellulitis in a 3-year-old male

2021 ◽  
Vol 8 (5) ◽  
pp. 920
Author(s):  
Trishell Simon ◽  
Chanique James
Keyword(s):  
Sexual Abuse ◽  
Physical Examination ◽  
Orbital Cellulitis ◽  
Age Group ◽  
Pediatric Age ◽  
Gonococcal Infection ◽  
Social Evaluation ◽  
Pediatric Age Group ◽  
Mode Of Transmission ◽  
Careful Physical Examination

Gonococcal orbital cellulitis is an infrequent presentation within the pediatric age group, with very few cases reported in literature. Even rarer, is the nonvenereal transmission via fomites. Careful physical examination with detailed social evaluation must always be obtained in any child with a gonococcal infection to look for signs or evidence of sexual abuse. This paper reports a 3-year-old male who developed a left preseptal and postseptal gonococcal orbital cellulitis via a nonsexual mode of transmission.

Sign in / Sign up

Export Citation Format

Share Document