A novel mutation in the FOXC2 gene: a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasis

Abstract Background Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. Patients and methods Subjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for mutations in the FOXC2 gene. Results All affected family members with lymphoedema of lower limbs without distichiasis, and still asymptomatic six years old girl from the same family, carried the same previously unreported insertion of adenosine (c.867insA) in FOXC2. Conclusions Identification of a novel mutation in the FOXC2 gene in affected family members of three generations with lymphoedema of lower limbs without distichiasis, highlights the high phenotypic variability caused by FOXC2 mutations.

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Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family

Genes ◽

10.3390/genes12040512 ◽

2021 ◽

Vol 12 (4) ◽

pp. 512

Author(s):

Aleksandra Gilis-Januszewska ◽

Anna Bogusławska ◽

Kornelia Hasse-Lazar ◽

Beata Jurecka-Lubieniecka ◽

Barbara Jarząb ◽

...

Keyword(s):

Neuroendocrine Tumor ◽

Clinical Presentation ◽

Age Of Onset ◽

Malignant Tumors ◽

Genetic Disorder ◽

Family Members ◽

Pancreatic Neuroendocrine Tumor ◽

Index Patient ◽

Generation Family

Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localization, age of onset, and clinical aggressiveness, even between affected members within the same family. We describe a heterogenic phenotype of the MEN1 variant c.781C>T (LRG_509t1), which was previously reported only once in a family with isolated hyperparathyroidism. A heterozygous missense variant in exon 4 of the gene was identified in the sequence of the MEN1 gene, i.e., c.781C>T, leading to the amino acid change p.Leu261Phe in a three-generation family. In the screened family, 5/6 affected members had already developed hyperparathyroidism. In the index patient and two other family members, an aggressive course of pancreatic neuroendocrine tumor (insulinoma and non-functioning neuroendocrine tumors) with dissemination was diagnosed. In the index patient, late diagnosis and slow progression of the disseminated neuroendocrine tumor have been observed (24 years of follow-up). The very rare variant of MEN1, LRG_509t1 c.781C>T /p.Leu261Phe (LRG_509p1), diagnosed within a three-generation family has a heterogenic clinical presentation. Further follow-up of the family members should be carried out to confirm the spectrum and exact time of clinical presentation.

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Hailey Hailey-a blooming disease

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20210068 ◽

2021 ◽

Vol 7 (2) ◽

pp. 285

Author(s):

Ilakkia P. Sadasivam ◽

Govardhan Jagadeeshkumar ◽

Oudeacoumar Paquirissamy ◽

Jude E. Dileep ◽

Rajkiran Takharya ◽

...

Keyword(s):

Histopathological Examination ◽

Genetic Disorder ◽

Geographical Area ◽

Family Members ◽

The Body ◽

Topical Steroids ◽

Brick Wall ◽

Rare Genetic Disorder ◽

The Common

<p>Hailey Hailey disease (HHD) is a rare genetic disorder which is more common in summers. It involves intertriginous areas of the body. Axilla, abdomen, back, nape of neck are the common sites involved. We hereby present three patients of HHD from same geographical area with no blood relation. Two of them had other family members also involved with the similar complaints. One of the patients is 50 years of age. Diagnosis was done both by clinical and histopathological examination. It showed epidermis with intraepidermal bulla and acantholytic keratinocytes giving dilapidated brick wall appearance. Treatment mainly used was topical steroids &antihistamines and patients responded well.</p>

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Measurement and Analysis of Human Lower Limbs Movement Parameters during Walking

Solid State Phenomena ◽

10.4028/www.scientific.net/ssp.220-221.538 ◽

2015 ◽

Vol 220-221 ◽

pp. 538-543 ◽

Cited By ~ 3

Author(s):

Sergei Zhigailov ◽

Artem Kuznetcov ◽

Victor Musalimov ◽

Gennady Aryassov

Keyword(s):

Human Motion ◽

The Body ◽

Lower Limbs ◽

Human Gait ◽

Inertial Measurement ◽

Double Support ◽

Motion Parameters ◽

Using Data ◽

Movement Parameters ◽

Different Parts

It is necessary to analyze human gait for treatment and rehabilitation of human with musculoskeletal disorders of the locomotion apparatus (LA). The main goal of this work is evaluation of locomotion apparatus motion parameters captured by inertial measurement units (IMU) during walking. Motion Capture technology is process of getting practical results and data from IMU installed in different parts of human lower limbs. Synchronously, IMU send information about human movements to PC at the same moment of time. Such method gives an opportunity to follow parameters in some points of human leg in real time. The way of devices mounting and instruction for human under monitoring are based on related medical projects. Walking is selected for estimation of the musculoskeletal system as typical action. Experiment results got from several experiments were considered and analyzed.Basically, walking is described as a set of the system “human” discrete states. In the same time, the IMU sensors transmit motion parameters data continuously. It is proposed to present the man as a system with a control signal in the form of the double support period. The length will be measured using data from IMU. Double support period is chosen because its presence distinguishes walking from running.The most attention is given to getting the same practical results and data that can be obtained by placing the devices in different parts of the body. Moreover, a technique of using inertial measurement devices for measuring human motion to get some numerical results is shown. The use of this technique in practice demonstrated that it can be used to obtain an objective parameter describing the motion of the person. Continuation of this work is directed to create a complete model of the lower limbs motion for usage in practice [1].

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Congenital Hypothyroidism and Late-Onset Goiter: Identification and Characterization of a Novel Mutation in the Sodium/Iodide Symporter of the Proband and Family Members

Thyroid ◽

10.1089/thy.2009.0080 ◽

2009 ◽

Vol 19 (12) ◽

pp. 1419-1425 ◽

Cited By ~ 9

Author(s):

Lucia Montanelli ◽

Patrizia Agretti ◽

Giuseppina de Marco ◽

Brunella Bagattini ◽

Claudia Ceccarelli ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Sodium Iodide ◽

Late Onset ◽

Novel Mutation ◽

Family Members ◽

Sodium Iodide Symporter ◽

Identification And Characterization

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Phenotypic variability and genetic characteristics of PRRT2-associated paroxysmal movement disorders in 13 Chinese families

10.21203/rs.3.rs-288854/v1 ◽

2021 ◽

Author(s):

Lulu Wu ◽

Xinyu Yang ◽

Xiaocui Wang ◽

Shuang Yu ◽

Bin Yang

Keyword(s):

Movement Disorders ◽

Novel Mutation ◽

Phenotypic Variability ◽

Infantile Spasm ◽

Family Members ◽

Clinical Findings ◽

Genetic Characteristics ◽

Chinese Families ◽

Pathogenic Variants ◽

Infantile Epilepsy

Abstract PRRT2-associated paroxysmal movement disorders (PRRT2-PxMDs) include paroxysmal kinesigenic dyskinesias (PKD), benign familial infantile epilepsy (BFIE), infantile convulsions and choreoathetosis (ICCA), episodic ataxia (EA), paroxysmal nonkinesiasgenic dyskinesias (PNKD), and, in addition, other childhood-onset movement disorders and different types of seizures may be caused by PRRT2 mutations, suggesting that the understanding of the spectrum of PRRT2-PxMDs is still evolving. We collected and analyzed retrospectively the clinical of children diagnosed with paroxysmal movement disorders by the Department of Neurology of Anhui Provincial Children's Hospital from January 2015 to June 2020. The genetic tests were performed in the probands and their family members. Thirteen children and their family members, 30 in total, were tested. Twenty six patients and 4 (13.34%) carriers from 13 families were identified, 14 (46.67%) were diagnosed with BIE, 7 (23.33%) with PKD, 2 (6.67%) with ICCA, 1 (3.33%) with epilepsy (focal), 1 (3.33%) with infantile spasm (IS), and 1 (3.33%)was diagnosed with PKD and PNKD, Eight different variants were identified in 13 families, and NM_145239.2:c.640-641insC was found in 4 families while recurrent mutation c.649dupC was not found. Three novel mutation, c.884G > C, c.865G > C, and c.-65-1G > C were identified in this study. This study confirmed that there is no clear genotype-phenotype correlation in patients with PRRT2-PxMDs, in addition, the clinical findings show variable phenotype within families, including the families affected due to the newly identified pathogenic variants in this study.

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Mid-aortic syndrome: computed tomography angiography depicting extensive collateral circulation in an 11-year-old patient with thoracoabdominal aortic coarctation

VASA ◽

10.1024/0301-1526/a000176 ◽

2012 ◽

Vol 41 (2) ◽

pp. 132-135 ◽

Cited By ~ 2

Author(s):

Krohn ◽

Gebauer ◽

Hübler ◽

Beck

Keyword(s):

Computed Tomography ◽

Computed Tomography Angiography ◽

Collateral Circulation ◽

Intestinal Ischemia ◽

Clinical Presentation ◽

Lower Limbs ◽

Upper Body ◽

Descending Aorta ◽

Before And After ◽

Blood Pressures

The mid-aortic syndrome is an uncommon clinical condition characterized by severe narrowing of the descending aorta, usually with involvement of its renal and visceral branches, presenting with uncontrollably elevated blood pressures of the upper body, renal and cardiac failure, intestinal ischemia, encephalopathy symptoms and claudication of the lower limbs, although clinical presentation is variable. In this article we report the case of an eleven-year-old patient with the initial diagnosis of a mid-aortic syndrome and present the computed tomography angiography pictures and reconstructions before and after surgical therapy.

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Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

Neuropediatrics ◽

10.1055/s-0036-1583661 ◽

2016 ◽

Vol 47 (S 01) ◽

Author(s):

A. Dieckmann ◽

F. Majer ◽

H. Hulkova ◽

M. Farr ◽

T. Kalina ◽

...

Keyword(s):

Male Patient ◽

Clinical Presentation ◽

Novel Mutation ◽

Diagnostic Workup ◽

Danon Disease ◽

Lamp2 Gene

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Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

Iranian Journal of Neurosurgery ◽

10.32598/irjns.5.3.9 ◽

2020 ◽

Vol 5 (3 And 4) ◽

pp. 155-160

Author(s):

Mohsen Aghapoor ◽

◽

Babak Alijani Alijani ◽

Mahsa Pakseresht-Mogharab ◽

◽

...

Keyword(s):

Antifungal Drugs ◽

The Body ◽

Lower Limbs ◽

Lumbar Pain ◽

Case Presentation ◽

Delay In Diagnosis ◽

Death Case ◽

Therapeutic Results ◽

History Of ◽

Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

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Updating long-held assumptions about fat stigma: For women, body shape plays a critical role

10.31234/osf.io/b6t7a ◽

2020 ◽

Author(s):

Jaimie Krems ◽

Steven L. Neuberg

Keyword(s):

Body Shape ◽

Critical Role ◽

The Body ◽

Theoretical Assumption ◽

Obesity Stigma ◽

Obese Female ◽

Three Samples ◽

Female Bodies ◽

Different Parts ◽

Fat Stigma

Heavier bodies—particularly female bodies—are stigmatized. Such fat stigma is pervasive, painful to experience, and may even facilitate weight gain, thereby perpetuating the obesity-stigma cycle. Leveraging research on functionally distinct forms of fat (deposited on different parts of the body), we propose that body shape plays an important but largely underappreciated role in fat stigma, above and beyond fat amount. Across three samples varying in participant ethnicity (White and Black Americans) and nation (U.S., India), patterns of fat stigma reveal that, as hypothesized, participants differently stigmatized equally-overweight or -obese female targets as a function of target shape, sometimes even more strongly stigmatizing targets with less rather than more body mass. Such findings suggest value in updating our understanding of fat stigma to include body shape and in querying a predominating, but often implicit, theoretical assumption that people simply view all fat as bad (and more fat as worse).

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Correction of Posture Deviations in the Sagittal Plane Using the Pilates Method

SPORT AND SOCIETY ◽

10.36836/uaic/fefs/10.50 ◽

2019 ◽

pp. 3-13

Author(s):

Alexandru Cîtea ◽

George-Sebastian Iacob

Keyword(s):

Low Back Pain ◽

Back Pain ◽

Postural Control ◽

Human Body ◽

Sagittal Plane ◽

The Body ◽

Lower Limbs ◽

Low Back ◽

Pilates Method ◽

The Relationship

Posture is commonly perceived as the relationship between the segments of the human body upright. Certain parts of the body such as the cephalic extremity, neck, torso, upper and lower limbs are involved in the final posture of the body. Musculoskeletal instabilities and reduced postural control lead to the installation of nonstructural posture deviations in all 3 anatomical planes. When we talk about the sagittal plane, it was concluded that there are 4 main types of posture deviation: hyperlordotic posture, kyphotic posture, rectitude and "sway-back" posture.Pilates method has become in the last decade a much more popular formof exercise used in rehabilitation. The Pilates method is frequently prescribed to people with low back pain due to their orientation on the stabilizing muscles of the pelvis. Pilates exercise is thus theorized to help reactivate the muscles and, by doingso, increases lumbar support, reduces pain, and improves body alignment.

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