7 results on '"Urogenital tract malformation"'
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2. Acronyms for genetics presentations.
- Author
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Hunter M., Regan M., Hunter M., and Regan M.
- Abstract
An initial task for a clinical genetics trainee is to learn the features of a number of common conditions such as Marfan syndrome, Noonan syndrome and Kabuki syndrome to name a few. A number of conditions are named after their clinical features such as CHARGE syndrome (Coloboma, Heart defect, choanal Atresia, growth Retardation, Genitourinary anomalies and Ears concave/deafness) and a number of other acronyms can be found on the internet. As the trainee matures into the second year, a more structured approach is required for developing a differential diagnosis list for a clinical presentation. Chapter two of the Oxford Desk Reference Clinical Genetics outlines the clinical approach to a number of presentations. Here we present a number of new acronyms for clinical presentations, loosely based on this chapter. It should be stated that while acronyms are very helpful for some individuals, this is not universal and careful consideration should be given before making acronyms mandatory. In developing the acronyms, we try to use a name that is in some way related to the presentation, rather than just 'ABCD...' or 'LMNOP'.We avoid the use of pejoratives; however, we try to add a humorous edge if possible. Some of these require a little stretch of the imagination. Acronyms for common presentations include: ANORECTOL, TVA (two in Swedish) BOIL (cysts) for polycystic kidney disease, BROAD PhalanGe, CAFE NOT BLACK, DIAFRAGM (hernia), CONgential HEART DISease, KAPUT COCHLEA, FLOPPIES, BRINK 5% (cut-off for limb asymmetry), FAT NOGGIN, SMALL HEAD, TOF, and BIG SPROG (overgrowth).
- Published
- 2019
3. The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene
- Author
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Ergin, H., Nur Semerci, C., Tuǧrul Karakuş, Y., Scheffer, H., Ergin, Ş, Koltuksuz, U., Meijer, R., and N Lale Satiroglu Tufan
- Subjects
mutational analysis ,Male ,Heterozygote ,hand malformation ,foot malformation ,Turkey ,genotype phenotype correlation ,Cleft Lip ,DNA Mutational Analysis ,Limb Deformities, Congenital ,EEC syndrome (ectrodactyly (E) ,P63 gene ,face malformation ,Genomic disorders and inherited multi-system disorders [IGMD 3] ,Nonsyndromic split hand-foot malformation ,EEC syndrome ,newborn ,Ectodermal Dysplasia ,case report ,echocardiography ,Humans ,guanine ,exon ,gene mutation ,human ,gene ,adenine ,cleft palate ,Tumor Suppressor Proteins ,article ,Infant, Newborn ,echography ,Genetic Diseases, X-Linked ,urogenital tract malformation ,clinical feature ,Cleft Lip/genetics ,Cleft Palate/genetics ,Ectodermal Dysplasia/genetics ,Female ,Genetic Diseases, X-Linked/genetics ,Limb Deformities, Congenital/genetics ,Mutation ,Phenotype ,Trans-Activators/*genetics ,Transcription Factors ,Tumor Suppressor Proteins/*genetics ,stomatognathic diseases ,female ,Ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate) ,laboratory test ,Trans-Activators ,heart atrium septum defect ,urogenital sinus ,cystourethrography - Abstract
The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients. Nonsyndromic split hand/foot malformation (SHFM) is one of the EEC-like syndromes, and the p63 gene mutation was reported in only a few patients. Five different loci have been mapped to date, but the etiology is yet to be explained in the rest of the patients. Here, we report two cases. Case 1, diagnosed with EEC syndrome, had type 2 urogenital sinus and a new heterozygous mutation of 934G>A (D312N) in exon 8 of the p63 gene. Case 2 was diagnosed as SHFM with no mutation in the p63 gene. Genotype and phenotype correlation of these two cases among the reported patients is discussed in this report.
- Published
- 2010
4. The EEC syndrome and SHFM: Report of two cases and mutation analysis of p63 gene
- Author
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Ergin, Hacer, Semerci Gündüz, Cavidan Nur, Tugrul Karakuş, Y., Scheffer, H., Ergin, Şeniz, Koltuksuz, U., and Meijer, R.
- Subjects
mutational analysis ,Male ,Heterozygote ,hand malformation ,foot malformation ,Turkey ,genotype phenotype correlation ,Cleft Lip ,DNA Mutational Analysis ,Limb Deformities, Congenital ,EEC syndrome (ectrodactyly (E) ,P63 gene ,face malformation ,Nonsyndromic split hand-foot malformation ,EEC syndrome ,newborn ,Ectodermal Dysplasia ,case report ,echocardiography ,Humans ,guanine ,exon ,gene mutation ,human ,gene ,adenine ,cleft palate ,Tumor Suppressor Proteins ,article ,Infant, Newborn ,echography ,Genetic Diseases, X-Linked ,urogenital tract malformation ,clinical feature ,female ,Phenotype ,Ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate) ,laboratory test ,Mutation ,Trans-Activators ,heart atrium septum defect ,urogenital sinus ,cystourethrography - Abstract
The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia. The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients. Nonsyndromic split hand/foot malformation (SHFM) is one of the EEC-like syndromes, and the p63 gene mutation was reported in only a few patients. Five different loci have been mapped to date, but the etiology is yet to be explained in the rest of the patients. Here, we report two cases. Case 1, diagnosed with EEC syndrome, had type 2 urogenital sinus and a new heterozygous mutation of 934G>A (D312N) in exon 8 of the p63 gene. Case 2 was diagnosed as SHFM with no mutation in the p63 gene. Genotype and phenotype correlation of these two cases among the reported patients is discussed in this report.
- Published
- 2010
5. Contamination rates of different urine collection methods for the diagnosis of urinary tract infections in young children: An observational cohort study.
- Author
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Babl F.E., Tosif S., Baker A., Oakley E., Donath S., Babl F.E., Tosif S., Baker A., Oakley E., and Donath S.
- Abstract
Aims: The optimal method for diagnostic collection of urine in children is unclear. National Institute of Health and Clinical Excellence recommend specimens taken by clean catch urine (CCU) for identification of urinary tract infection (UTI). We investigated contamination rates for CCU, suprapubic aspiration (SPA), catheter specimen urine (CSU) and bag specimen urine (BSU) collections. Method(s): Retrospective observational cohort study with review of microbiology data and medical records at a large tertiary children's hospital. We reviewed urine culture growth from consecutive first urine specimens of children aged <2 years, over a 3-month period in 2008. Patient demographics, collection method, location (emergency department, inpatient ward), culture growth, history of UTI, urogenital tract abnormality and antibiotic use were assessed. Contamination rates for collection methods were compared using logistic regression. Result(s): Urine culture specimens of 599 children (mean age 7.0 months, 54% male) were included. There were 34% CCU, 16% CSU, 14% SPA, 2% BSU and 34% with unknown sample method. Contamination rates were 26% in CCU, 12% in CSU (odds ratio (OR) 0.4, 95% confidence interval (CI) 0.2-0.8) and 1% in SPA (OR 0.03 95% CI 0.0-0.3). Concurrent antibiotics use was associated with a lower contamination rate. Contamination rates were not associated with age, sex, location, history of UTI or urogenital abnormalities. Conclusion(s): Contamination rates in CCU are much higher than in CSU and SPA samples. Ideally, SPA should be used for microbiological assessment of urine in young children. Collection procedures need to be optimised if CCU is used. © 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).
- Published
- 2012
6. A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies
- Author
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Ergin, Hacer, Semerci, Cavidan Nur, Bican, M., Düzcan, Füsun, Yaǧci, A.B., Erdoǧan, K.M., and Tufan, Ahmet Çevik
- Subjects
Male ,bone radiography ,Ectromelia ,Proximal femoral focal deficiency (PFFD) ,physical examination ,proximal femoral focal deficiency ,Fibular a/hypoplasia (FA/H) ,Hox genes ,Cryptorchidism ,case report ,Humans ,Abnormalities, Multiple ,cryptorchism ,human ,Femur ,hypospadias ,Urogenital anomalies ,gestational age ,foot radiography ,Homeodomain Proteins ,fibula aplasia ,disease association ,article ,chromosome analysis ,Genes, Homeobox ,Infant, Newborn ,birth weight ,syndactyly ,embryo development ,infant ,urogenital tract malformation ,Fibula ,Karyotyping ,Mutation ,body height ,leg malformation - Abstract
Malformations of the lower limbs are rare and heterogeneous anomalies. Some congenital anomalies involving face, gastrointestinal system, skeletal system, urogenital system, heart, lung and diaphragma associated with lower limb malformations have been described in the literature. Here, we report a case of left proximal femoral focal deficiency (PFFD) together with fibular aplasia associated with left undescended testis and hypospadias. The putative embryologic mechanisms of lower limb defects and their possible association with lower urogenital tract malformations are also discussed.
- Published
- 2006
7. Experience with neovaginal construction using the full-thickness skin graft in vaginal agenesis
- Author
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Sel uk Akn, Uludağ Üniversitesi/Tıp Fakültesi/Plastik ve Rekonstrüktif Cerrahi Anabilim Dalı., and Akın, Selçuk
- Subjects
Adult ,Urogenital tract malformation ,medicine.medical_specialty ,Vaginal agenesis ,Adolescent ,Full thickness skin graft ,Rectum ,Article ,Gynecologic surgery ,Vaginal stent ,Gynecologic surgical procedures ,Stent ,Medicine ,Humans ,Skin transplantation ,In patient ,Treatment outcome ,Sigmoid colon ,business.industry ,Methodology ,Full-thickness skin graft ,Flap ,MLCS ,Surgery ,MLOWN ,medicine.anatomical_structure ,Neovaginal construction ,Vaginoplasty ,Urogenital abnormalities ,Vagina ,Vaginal construction ,Female ,Stents ,Congenital malformation ,Contracture ,medicine.symptom ,Reconstruction ,Mullerian Aplasia ,Sex Reassignment Surgery ,Vagina Reconstruction ,business ,Artificial vagina ,Human - Abstract
The correction of vaginal agenesis requires the creation of a neovaginal cavity that is dissected between the bladder and the rectum. To protect the length of the cavity, it is necessary to ensure the complete epithelialization of the apex of the ncovaginal cavity. The author prefers to tailor 2 pieces of full-thickness skin grafts longitudinally oil a vaginal stent that is molded into bullet shape. Six girls with vaginal agenesis underwent neovaginal construction using this method. The apex of the neovaginal cavity was perfectly epithelialized using this vaginal stent. The length of the ncovaginal cavity that is dissected during the operation was protected. The follow-up period ranged from 24 to 93 months (median, 57.2 months). Postoperative stricture or contracture of the neovagina did not occur in all patients. As a result, full-thickness skin graft is an efficient method for vaginal construction in patients with vaginal agenesis.
- Published
- 2004
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