scholarly journals Génvizsgálat Treacher Collins-szindrómában

2020 ◽  
Vol 161 (52) ◽  
pp. 2201-2205
Author(s):  
Anna Zsigmond ◽  
Ágnes Till ◽  
Adrienn Lilla Pintér ◽  
Anita Maász ◽  
András Szabó ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Major Gene ◽  
Lower Eyelid ◽  
Dominant Mode ◽  
Treacher Collins Syndrome ◽  
Incomplete Penetrance ◽  
The Family ◽  
Life Threatening ◽  
Conductive Hearing

Összefoglaló. A Treacher Collins-szindróma a mandibulofacialis dysostosisok csoportjába tartozó kórkép. Főbb jellegzetességei a maxillaris és mandibularis dysostosis, az antimongoloid szemrések, az alsó szemhéj colobomája, illetve a vezetéses halláscsökkenés. A szindrómával járó tünetek egyénenként és családon belül is nagyon eltérőek lehetnek; legenyhébb formái csaknem észrevehetetlenek, míg a súlyosabb esetekben az életet veszélyeztető légúti szövődmények léphetnek fel. Hátterében az esetek döntő többségében a TCOF1-gén eltérései játszanak szerepet, mely eltérések autoszomális domináns módon öröklődnek. Esetbemutatásunk célja, hogy felhívjuk a figyelmet a genetikai vizsgálat elvégzésének fontosságára olyan, klinikailag jól felismerhető tünetegyüttes, mint a Treacher Collins-szindróma esetén. Bár a betegség a klinikai kép alapján diagnosztizálható, az ismétlődés kockázatát csak úgy tudjuk pontosan meghatározni, ha ismerjük a családtagok genotípusát. A bemutatott család több tagjánál kimutatható volt a TCOF1-gén mutációja, annak ellenére, hogy klinikai tünetük nem volt. A jelenség magyarázata az inkomplett penetrancia, azaz a hibás gén fenotípusosan nem kerül kifejeződésre. Orv Hetil. 2020; 161(52): 2201–2205. Summary. Treacher Collins syndrome belongs to the group of mandibulofacial dysostoses. Its main features are maxillary and mandibular dysostosis, downward-slanting palpebral fissures, coloboma of the lower eyelid and conductive hearing loss. The symptoms associated with the syndrome can vary greatly from individual to individual and within the family. In its mildest form, the syndrome is almost imperceptible, and when severe, life-threatening respiratory complication can occur. TCOF1 is the major gene involved with an autosomal dominant mode of inheritance. The purpose of our case study is to draw attention to the importance of performing genetic testing in a clinically recognizable disorder such as Treacher Collins syndrome. Although the disease can be diagnosed based on the clinical symptoms, the risk of recurrence can only be accurately determined if the genotype of the family members is known. Several members of the presented family had a mutation in the TCOF1 gene despite having no clinical symptoms. The explanation for this phenomenon is incomplete penetrance, i.e., the defective gene is not expressed in the phenotype. Orv Hetil. 2020; 161(52): 2201–2205.

scholarly journals A Case Study of Feline Panleukopenia in Cats at The Educational Animal Hospital of Universitas Airlangga

2020 ◽  
Vol 1 (1) ◽  
pp. 6
Author(s):  
Yusril Nur Mahendra ◽  
M. Gandul Atik Yuliani ◽  
Agus Widodo ◽  
Diyantoro Diyantoro ◽  
Miyayu Soneta Sofyan
Keyword(s):  
Physical Examination ◽  
Clinical Symptoms ◽  
Viral Disease ◽  
Treatment Result ◽  
Secondary Effects ◽  
Infection Pattern ◽  
The Family

Background: Feline panleukopenia is a viral disease caused by the family of Parvoviridae. Many species of pets, especially cats, that if they have been infected, compromised health and can lead to death. Purpose: To determine the infection pattern and treatment of feline panleukopenia in cats at the Educational Animal Hospital of Universitas Airlangga. Method: Ten patients were recorded as infected with parvovirus from a total of 1107 patients with various disease complaints. Daily records were taken regarding all clinical symptoms, physical examination, and treatment. Result: After four weeks, the obtained data were calculated. Thus, we collect data that show essential factors that can be used to determine the diagnose of feline panleukopenia in cats. Conclusion: Most parvovirus infections occurred in cats aged two to four years by showing abnormalities in temperature, breathing, and turgor. Clinical symptoms that appeared include vomiting, diarrhea, and high dehydration. Treatments were used to suppress the secondary effects of parvovirus infection and besides to eradicate the virus itself. 

P0065DOUBLE MUTATION INHERITANCE IN PATIENTS WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND ALPORT SUNDROME

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Jingyuan Xie
Keyword(s):  
Genetic Analysis ◽  
Focal Segmental Glomerulosclerosis ◽  
Clinical Symptoms ◽  
Compound Heterozygous ◽  
Incomplete Penetrance ◽  
Digenic Inheritance ◽  
Segmental Glomerulosclerosis ◽  
Whole Exome ◽  
The Family ◽  
Genetic Pools

Abstract Background and Aims Focal segmental glomerulosclerosis (FSGS) and Alport syndrome (AS) are the leading causes of ESRD globally. FSGS and AS are clinically heterogeneous nephropathies and mainly genetic causes are the mutations in genes expressed in podocytes and glomerular basement membrane (GBM) respectively. A simple Mendelian model fail to explain the genetic control of both nephropathies completely because of the heterogeneous nature and presence of incomplete penetrance. Therefore, here we investigated the possible digenic control of FSGS and AS. Method To detect the double mutational (mono- or di-genic) cause of FSGS and AS, we conducted whole exome sequencing (WES) and panel sequencing in 67 kidney patients during the period of four years (2015 to June 2019). Inclusion criteria was the proband's clinical symptoms confirming the FSGS or AS based on clinical symptoms and renal biopsy. Clinical and genetic analyses were implemented to correlate the phenotypes with genotypes. Results Genetic analysis discovered that 35 out of 67 (52.23%) had genetic cause of selected nephropathies and 24 out of 35 (68.57%) had mutations in COL4A (3,4 & 5) genes and 11 (31.42%) in other genes. Interestingly, we found 7 out of 35 patients (20%) with double mutations (mono- or di-genic) in COL4A3/COL4A4 genes. After the mentioned period, during routine genetic screening, we also found another patient having double mutations in COL4A3 gene. Subsequently, Sanger sequencing confirmed that the identified mutations were co-segregating with the disease(s) in an incomplete penetrance fashion within the family. Lastly, we found 16 mutations in 8 patients having either monogenic or digeneic double mutations in COL4A3 and/or COL4A4 genes. In sum, we found 12 (75%) mutations in COL4A3 and 4 in COL4A4 (25%), and5 probands (62.5%) had compound heterozygous mutations in COL4A3, 1 proband (12.5%) had in COL4A4 and 2 probands (25%) had digenic (COL4A3/COL4A4) mutations. Last of all, among all the mutations, 10 were novel and 6 have been described previously. Conclusion This genetic analysis provides the first evidence for digenic inheritance of FSGS. The nephrologists and clinical geneticists should keep this possibility in mind for the accuracy in diagnosis, disease management and genetic counseling in future. Additionally, we are also adding 10 novel mutations in COL4A3 and COL4A4 genetic pools.

scholarly journals A case of life-threatening obstetrical hemorrhage secondary to placental abruption at 17 weeks of gestation

2014 ◽  
Vol 4 (1) ◽  
Author(s):  
Toshihiko Kinoshita ◽  
Naoki Takeshita ◽  
Akiko Takashima ◽  
Yutaka Yasuda ◽  
Hiroaki Ishida ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Blood Transfusion ◽  
Vaginal Bleeding ◽  
Placental Abruption ◽  
Clinical Symptoms ◽  
Hypovolemic Shock ◽  
Lower Abdominal Pain ◽  
Threatening Condition ◽  
Life Threatening

A 40-year old woman, gravida 4, para 4, presented with sudden lower abdominal pain and severe vaginal bleeding at 17 weeks of gestation. Clinical symptoms and ultrasonographic finding revealed placental abruption. The volume of bleeding was heavy and led to disseminated intravascular coagulation and hypovolemic shock. We performed blood transfusion and therapy to treat the critical condition. However, the mother’s condition continued to worsen. Therefore, we performed a hysterotomy and aborted the pregnancy to save the mother. Since heavy bleeding caused by placental abruption leading to a life-threatening condition for a mother before the 20 weeks of gestation is very rare, the present case is an important case study.

A Family With Autosomal-Dominant Progressive Sensorineural Hearing Loss

1996 ◽  
Vol 5 (1) ◽  
pp. 23-32 ◽  
Author(s):  
Chris Halpin ◽  
Barbara Herrmann ◽  
Margaret Whearty
Keyword(s):  
Speech Production ◽  
Hearing Aids ◽  
Role Models ◽  
Speech Intelligibility ◽  
Large Scale ◽  
Speech Language Pathology ◽  
The Family ◽  
Patient Will ◽  
Language Pathology

The family described in this article provides an unusual opportunity to relate findings from genetic, histological, electrophysiological, psychophysical, and rehabilitative investigation. Although the total number evaluated is large (49), the known, living affected population is smaller (14), and these are spread from age 20 to age 59. As a result, the findings described above are those of a large-scale case study. Clearly, more data will be available through longitudinal study of the individuals documented in the course of this investigation but, given the slow nature of the progression in this disease, such studies will be undertaken after an interval of several years. The general picture presented to the audiologist who must rehabilitate these cases is that of a progressive cochlear degeneration that affects only thresholds at first, and then rapidly diminishes speech intelligibility. The expected result is that, after normal language development, the patient may accept hearing aids well, encouraged by the support of the family. Performance and satisfaction with the hearing aids is good, until the onset of the speech intelligibility loss, at which time the patient will encounter serious difficulties and may reject hearing aids as unhelpful. As the histological and electrophysiological results indicate, however, the eighth nerve remains viable, especially in the younger affected members, and success with cochlear implantation may be expected. Audiologic counseling efforts are aided by the presence of role models and support from the other affected members of the family. Speech-language pathology services were not considered important by the members of this family since their speech production developed normally and has remained very good. Self-correction of speech was supported by hearing aids and cochlear implants (Case 5’s speech production was documented in Perkell, Lane, Svirsky, & Webster, 1992). These patients received genetic counseling and, due to the high penetrance of the disease, exhibited serious concerns regarding future generations and the hope of a cure.

Edukasi dan Peningkatan Kualitas Pengelolaan Obat di Rumah Tangga: Studi Kasus di Dusun Sidasari Wetan Desa Kubangkangkung Kawunganten Cilacap (Education and Quality Improvement of Drug Management in Family: A Case Study at Dusun Sidasari Wetan, Kubang

2018 ◽  
Vol 2 (2) ◽  
pp. 93
Author(s):  
Hendri Wasito ◽  
Hening Pratiwi ◽  
Adi Wibowo ◽  
Nia Kurnia Solihat
Keyword(s):  
Quality Improvement ◽  
Home Visit ◽  
Behavioral Changes ◽  
Drug Management ◽  
Educational Effort ◽  
The Family ◽  
Service Activity ◽  
Knowledge And Attitude

Drugs are an important component of health services that are the needs of the community. There is still a lack ofcommunity knowledge of medicines and management especially for family members, hence an educational effort as well asimprovement of quality of drug management in family through training program and mentoring by pharmacist. Thiscommunity service activity aims to determine the knowledge and attitude of the community in managing drugs in the familyand improve the quality of drug management by the community in the family. The activity was conducted in SidasariWetanKubangkangkung Village Kawunganten Cilacap. The workshop on drug management in family was conducted by pharmaciststo the 33 participants. Data collection was done by using questionnaire and observation through home visit. The result of theactivity shows that the increase of knowledge and attitude of the society in managing drugs in the familywere 10% and 7%,respectively. Workshop activities and mentoring by pharmacists can provide benefits and behavioral changes in family drugsmanagement.

A Case Study of Non-Adoption: The Values of Location Tracking in the Family

2012 ◽  
Author(s):  
Asimina Vasalou ◽  
Anne-Marie Oostveen ◽  
Adam N. Joinson
Keyword(s):  
Location Tracking ◽  
The Family

scholarly journals Treatment and therapeutic strategies for pituitary apoplexy in pregnancy: a case series

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yuya Kato ◽  
Yoshikazu Ogawa ◽  
Teiji Tominaga
Keyword(s):  
Pituitary Apoplexy ◽  
Clinical Symptoms ◽  
Case Series ◽  
Optimal Timing ◽  
Presenting Symptoms ◽  
Pathological Evaluation ◽  
Mother And Child ◽  
Life Threatening ◽  
In Pregnancy

Abstract Background Pregnancy is a known risk factor for pituitary apoplexy, which is life threatening for both mother and child. However, very few clinical interventions have been proposed for managing pituitary apoplexy in pregnancy. Case presentation We describe the management of three cases of pituitary apoplexy during pregnancy and review available literature. Presenting symptoms in our case series were headache and/or visual disturbances, and the etiology in all cases was hemorrhage. Conservative therapy was followed until 34 weeks of gestation, after which babies were delivered by cesarean section with prophylactic bolus hydrocortisone supplementation. Tumor removal was only electively performed after delivery using the transsphenoidal approach. All three patients and their babies had a good clinical course, and postoperative pathological evaluation revealed that all tumors were functional and that they secreted prolactin. Conclusions Although the mechanism of pituitary apoplexy occurrence remains unknown, the most important treatment strategy for pituitary apoplexy in pregnancy remains adequate hydrocortisone supplementation and frequent hormonal investigation. Radiological follow-up should be performed only if clinical symptoms deteriorate, and optimal timing for surgical resection should be discussed by a multidisciplinary team that includes obstetricians and neonatologists.

scholarly journals Unexpected Diversity in Regenerating Sites Stresses the Importance of Baselines: A Case Study With Bats (Order Chiroptera) on the Osa Peninsula, Costa Rica

2021 ◽  
Vol 14 ◽  
pp. 194008292110281
Author(s):  
Elène Haave-Audet ◽  
Doris Audet ◽  
Michelle Monge-Velazquez ◽  
Eleanor Flatt ◽  
Andrew Whitworth
Keyword(s):  
Habitat Restoration ◽  
Insect Pest ◽  
Community Diversity ◽  
Baseline Survey ◽  
Cross Sectional ◽  
Osa Peninsula ◽  
The Family ◽  
Aerial Insectivores ◽  
Baseline State

Introduction: Background and Research Aims: Assessing biodiversity recovery is key to determine whether the objectives of habitat restoration for conservation are met. Many restoration initiatives use cross-sectional comparisons of wildlife communities to infer restoration impact instead of longitudinal assessments from a baseline state. Using an indicator of biodiversity in the neotropics— bats— we demonstrate how assessing community diversity and composition in an area targeted for restoration prior to implementation, and when compared to surrounding intact forest, provides the groundwork to track changes in the community post-restoration. Methods We assessed bat communities by 1) using mist-net surveys to identify species in the family Phyllostomidae (leaf-nosed bats), and 2) conducting acoustic surveys to identify non-phyllostomid species (aerial insectivores). Results For both groups, we found that areas targeted for restoration had similar diversity as the surrounding forest, but the two habitat types differed in community composition. Phyllostomids were captured at higher rates in forest, but aerial insectivores were detected at higher rates in restoration habitat. Conclusion Our baseline assessment revealed unexpected diversity in areas targeted for restoration. The presence of all trophic groups in restoration habitat suggests that bats provide key ecosystem services in the restoration process, such as through seed dispersal, pollination and insect pest control. Implications for Conservation: Conducting a baseline survey of bats in areas targeted for restoration demonstrated that the community was not species poor at the baseline and was different from the surrounding forest, allowing us to better track restoration success and the effects of different restoration treatments.

scholarly journals The quality of life in the relatives of Wolfram’s syndrome patients

2014 ◽  
Vol 5 (1) ◽  
pp. 89-97
Author(s):  
Gema Esteban ◽  
Mónica Ruano ◽  
Isabel Motero
Keyword(s):  
Quality Of Life ◽  
Diabetes Mellitus ◽  
Genetic Basis ◽  
Clinical Symptoms ◽  
Daily Life ◽  
Wolfram Syndrome ◽  
Clinical Aspects ◽  
The Family ◽  
Low Prevalence

Wolfram Syndrome (WS) is a rare disease (RD) with an estimated prevalence of 1/770,000 inhabitants. It is considered a multisystemic, chronic and progressive disease.WS diagnosis implies devastating consequences at physical, educational and emotional levels. WS is also known by the acronym DIDMOAD, derived from the first letters of the main clinical symptoms: Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Rare diseases are characterized by their low prevalence and the lack of knowledge on the pathophysiology and treatment of them. Interestingly, around 80% of RD have a genetic basis, and this fact causes doubts and uncertainties in the couples, about the idea of having another child. The existence of a RD in a family, alters significantly the relationships and the quality of life within the family. The present work remarks the huge value of psychosocial aspects in order to pay an adequate attention to these patients, not only taking care of the clinical aspects. The main purpose of this study has been to ascertain the quality of life of Wolfram’s syndrome affected patients, and its impact in the daily life.

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