Becker's Melanosis and Associated Abnormalities

1989 ◽  
Vol 6 (3) ◽  
pp. 259-259 ◽  
Keyword(s):  
Associated Abnormalities

The incidence of associated abnormalities in patients with sacrococcygeal teratoma

2018 ◽  
Vol 53 (10) ◽  
pp. 1918-1922 ◽  
Author(s):  
Marijke E.B. Kremer ◽  
Jessica F. Althof ◽  
Joep P.M. Derikx ◽  
Robertine van Baren ◽  
Hugo A. Heij ◽  
...  
Keyword(s):  
Sacrococcygeal Teratoma ◽  
Associated Abnormalities

scholarly journals Encephalocele: know it to deal with it

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Nilkanth Laxman Pal ◽  
Ambika Sumeet Juwarkar ◽  
Sanjaya Viswamitra
Keyword(s):  
Prognostic Factors ◽  
Imaging Modality ◽  
Point Of View ◽  
Extensive Literature ◽  
Resonance Imaging ◽  
Imaging Protocol ◽  
Imaging Protocols ◽  
Associated Malformations ◽  
Associated Abnormalities

Abstract Background Encephaloceles refer to the herniation of intracranial contents through the defect in the dura and calvarium. This article aims to equip the radiologists with all the necessary information to approach a case of encephalocele in a systematic manner and report in an organized format. Thus reduce the reporting time without overlooking any detail. Main text An extensive literature review was performed searching through the standard textbooks and electronic databases to obtain thorough information on the various encephaloceles particularly from a radiological point of view. The author’s observations were also incorporated in the review. Among the available imaging modalities, magnetic resonance imaging is the most versatile and considered the imaging modality of choice because of superior anatomic resolution in the characterization of central nervous system malformation. This study provides the reporting radiologist with a methodical guide to approach a case of encephalocele discussing the imaging protocol, relevant anatomy, classification, associated abnormalities, and imaging prognostic factors. Conclusion Encephalocele has always been a subject of predicament for radiologists. Understanding the relevant terminologies, anatomy, imaging protocols, classification, associated malformations/anomalies, and imaging prognostic factors will help to methodically approach each case and provide a systematic and comprehensive report.

scholarly journals Unilateral Aplasia versus Bilateral Aplasia of the Vertebral Artery: A Review of Associated Abnormalities

2017 ◽  
Vol 2017 ◽  
pp. 1-20 ◽  
Author(s):  
L. Vasović ◽  
M. Trandafilović ◽  
S. Vlajković ◽  
G. Djordjević ◽  
M. Daković-Bjelaković ◽  
...  
Keyword(s):  
Vertebral Artery ◽  
Genetic Factors ◽  
Retrospective Studies ◽  
Morphological Characteristics ◽  
Male Gender ◽  
Recent Case ◽  
Vascular Pathology ◽  
The Right ◽  
Associated Abnormalities

Morphological characteristics of 108 cases of uni- and bilateral aplasia of the vertebral artery (VA) in reports or images of retrospective studies, including one recent case, published between 1967 and 2016 are analyzed. Incidence, gender, persistence of carotid-vertebrobasilar anastomosis (CVBA), associated with other vascular variants, and vascular pathology in each group of uni- and bilateral VA aplasia are mutually compared. Most of the cases of VA aplasia in ages 31 to 80 were discovered in USA, Japan, and India. The bilateral VA aplasia is more common in the male gender than in the female one. The side of the VA aplasia had a significant effect on the side of CVBA persistence. Associated aplasia of other arteries was more common in cases of unilateral VA aplasia. The left VA was more commonly hypoplastic in cases of single right VA aplasia than the right VA in cases of single left VA aplasia. Aneurysms of definitive arteries were more frequent in cases of single right VA aplasia than in cases of single left VA aplasia. We claim that the aplasia of the VA probably depends on genetic factors in some races, while diseases are expressed usually in persons over 30 years of age.

scholarly journals Genetic hearing loss: a study of 228 Brazilian patients

2000 ◽  
Vol 23 (1) ◽  
pp. 25-27 ◽  
Author(s):  
Silvia Bragagnolo Longhitano ◽  
Décio Brunoni
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Genetic Etiology ◽  
Parental Consanguinity ◽  
Genetic Hearing Loss ◽  
Associated Abnormalities

We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case. Deafness with no associated abnormalities was found in 146 patients (64%) belonging to 112 families. Syndromic deafness was diagnosed in 82 patients (36%) belonging to 76 families. The genetic etiology was as follows: autosomal recessive inheritance in 40.8% of syndromics and non-syndromics, autosomal dominant inheritance in 13.2% and X-linked recessive in 1.3%. In 44.7% of the cases, the etiology of the hearing loss could not be determined. Monogenic causes are the most possible etiology in the latter cases. Parental consanguinity was found in 22.4% of the cases, and deafness was bilateral, profound and neurosensorial in 47.4% of the patients. An early onset of hearing loss (< 2 years of age) occurred in 46.5% of the cases. These results are similar to previous literature reports.

scholarly journals MnSOD activity protects mitochondrial morphology of quiescent fibroblasts from age associated abnormalities

Mitochondrion ◽  
2010 ◽  
Vol 10 (4) ◽  
pp. 342-349 ◽  
Author(s):  
Ehab H. Sarsour ◽  
Monali Goswami ◽  
Amanda L. Kalen ◽  
Prabhat C. Goswami
Keyword(s):  
Mitochondrial Morphology ◽  
Mnsod Activity ◽  
Associated Abnormalities

scholarly journals Klippel–Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
John W. Stelzer ◽  
Miguel A. Flores ◽  
Waleed Mohammad ◽  
Nathan Esplin ◽  
Jonathan J. Mayl ◽  
...  
Keyword(s):  
Upper Extremity ◽  
Shoulder Girdle ◽  
Severe Form ◽  
Upper Extremities ◽  
Congenital Deformity ◽  
Radiographic Imaging ◽  
Case Presentation ◽  
Vertebral Bodies ◽  
Woodward Procedure ◽  
Associated Abnormalities

Introduction. Klippel–Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Case Presentation. A 3-year-old girl presented for further evaluation of a left upper extremity deformity following a negative genetic workup. Upon physical exam and radiographic imaging, the patient was diagnosed with KFS and associated abnormalities including cervical scoliosis, Sprengel deformity, and congenital deformity of the left upper extremity. Deformities of the left upper extremity include radioulnar synostosis, a four-rayed hand, and absent thenar musculature. The Sprengel deformity was corrected surgically with a Woodward procedure. Discussion. Congenital musculoskeletal deformities can be differentiated based upon spinal and limb embryology. The presence of extraspinal abnormalities not originating from somite differentiation may suggest a severe form of KFS. Important considerations in the workup of the KFS patient include looking for deformities of the shoulder girdle and upper extremities to identify abnormalities for intervention at a young age.

Congenital Duodenal Obstruction: Evaluation of 68 Cases

2021 ◽  
Author(s):  
Emel Çolak ◽  
Ayşenur Celayir
Keyword(s):  
Duodenal Obstruction ◽  
Associated Anomalies ◽  
Hospital Records ◽  
Cardiac Malformations ◽  
Congenital Duodenal Obstruction ◽  
Clinical Presentations ◽  
Hospitalization Period ◽  
Common Causes ◽  
The Mean ◽  
Associated Abnormalities

INTRODUCTION: Congenital duodenal obstruction, which is one of the most common causes of intestinal obstruction in neonates, gain importance in terms of associated anomalies. In this study, we aimed to review our experience with congenital duodenal obstruction cases operated in our clinic while evaluating the results of these patients. METHODS: All hospital records of neonates with congenital duodenal obstruction which had operated in our department between 2004 and 2017 were reviewed retrospectively. Patients were evaluated according to their demographic features, clinical presentations, associated anomalies, treatments and outcomes. RESULTS: During 13 years, 68 newborns (36 males, 32 females) with congenital duodenal obstruction were operated. The mean gestational age was 35.7±3.1weeks (28-44weeks), the mean birth weight was 2477±651.5 gram (1100–4100 gram) and 46 (67.7%) of them were premature. Associated abnormalities were detected in 37 neonates (54.4%); 16 of them (23.5%) had congenital cardiac malformations, and 13 of them (19.1%) had Down Syndrome. In neonates with associated abnormalities; the avarage period to start enteral feeding was 9.5±5.8 days (4-37days) and the mean hospitalization period was 25.6±26.2days (9-140days). These values were found 7.6±3.2 days (4-20days) and 17.5±13.7days (8-80days) respectively for the patients having no associated anomalies. Postoperative complications such as ileus, septicemia and nutritional intolerance were seen in 17 patients (25%); 3 of them (4.4%) need re-operation. While 63 patients (92.6%) were discharged on average 21.4±22 days (8-140 days); due to septicemia and severe congenital cardiac malformations 5 patients (7.4%) were died in 27.2±14.1 days (11-43days) postoperatively. The rate of septicemia was statistically significantly higher in patients with excitus than the ones who were discharged (p<0.001). DISCUSSION AND CONCLUSION: The presence of associated abnormalities in patients with congenital duodenal obstruction increases the risk of morbidity and mortality. Septicemia and severe congenital cardiac malformations adversely affect prognosis.

Hereditary Brachydactylia and Associated Abnormalities in the Rabbit

Science ◽  
1935 ◽  
Vol 81 (2104) ◽  
pp. 405-407
Author(s):  
Harry S. N. Greene
Keyword(s):  
Associated Abnormalities

Chiari Malformation with Syringomyelia

2019 ◽  
pp. 57-64
Author(s):  
Yiping Li ◽  
Bermans J. Iskandar
Keyword(s):  
Foramen Magnum ◽  
Chiari I Malformation ◽  
Neurological Deficits ◽  
Csf Leakage ◽  
Craniocervical Instability ◽  
Chiari I ◽  
Spine Mri ◽  
Operative Monitoring ◽  
Associated Abnormalities ◽  
Cerebellar Tonsils

Chiari I malformation (CIM) is defined by pathological herniation of the cerebellar tonsils below the foramen magnum. Operative intervention for CIM is generally undertaken to treat neurological deficits associated with tonsillar herniation or with associated syringomyelia. A complete brain and spine MRI is indicated to rule out associated abnormalities and to identify and the presence and extent of syringomyelia. The type of surgical decompression remains controversial but may include bone-only decompression, bony decompression followed by duraplasty, and bony decompression followed by duraplasty and tonsillar shrinkage. Post-operative monitoring for CSF leakage, inadequate decompression, subtle chronic craniocervical instability, and hydrocephalus is critical.

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