scholarly journals Sulco Perineal: Uma Anomalia Congénita Rara

2016 ◽  
Vol 29 (10) ◽  
pp. 670 ◽  
Author(s):  
Manuel Barbosa ◽  
Nuno Alves ◽  
Natacha Fontes
Keyword(s):  
Primary Care ◽  
Case Report ◽  
Physical Examination ◽  
Anorectal Malformation ◽  
Newborn Girl

Perineal groove is a rare congenital anorectal malformation, with incidence yet undetermined. It is almost exclusive to the female newborn and its embryogenic origin remains uncertain. We present a case-report of a newborn girl that was discharged from the nursery without complications. At her first appointment at primary care we noted a wet sulcus connecting the posterior vaginal commissure and the anus. This case report emphasizes the rarity of the perineal groove and the importance of a good quality history and physical examination at primary care.

Odontoid cervical gout causing atlantoaxial instability: case report

2019 ◽  
Vol 30 (4) ◽  
pp. 541-544
Author(s):  
Justin Slavin ◽  
Marcello DiStasio ◽  
Paul F. Dellaripa ◽  
Michael Groff
Keyword(s):  
Rheumatoid Arthritis ◽  
Spinal Cord ◽  
Case Report ◽  
Physical Examination ◽  
Odontoid Process ◽  
Signs And Symptoms ◽  
Cord Compression ◽  
Atlantoaxial Instability ◽  
Posterior Stabilization ◽  
Rotatory Subluxation

The authors present a case report of a patient discovered to have a rotatory subluxation of the C1–2 joint and a large retroodontoid pannus with an enhancing lesion in the odontoid process eventually proving to be caused by gout. This patient represented a diagnostic conundrum as she had known prior diagnoses of not only gout but also sarcoidosis and possible rheumatoid arthritis, and was in the demographic range where concern for an oncological process cannot fully be ruled out. Because she presented with signs and symptoms of atlantoaxial instability, she required posterior stabilization to reduce the rotatory subluxation and to stabilize the C1–2 instability. However, despite the presence of a large retroodontoid pannus, she had no evidence of spinal cord compression on physical examination or imaging and did not require an anterior procedure to decompress the pannus. To confirm the diagnosis but avoid additional procedures and morbidity, the authors proceeded with the fusion as well as a posterior biopsy to the retroodontoid pannus and confirmed a diagnosis of gout.

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

scholarly journals MURCS association and anorectal malformation: Case report of a female newborn

2017 ◽  
Vol 18 ◽  
pp. 19-23
Author(s):  
Sofia Morão ◽  
Fernando Chaves ◽  
Daniel Virella ◽  
Fátima Alves ◽  
Rui Alves ◽  
...  
Keyword(s):  
Case Report ◽  
Anorectal Malformation

scholarly journals High anorectal malformation in a five-month-old boy: a case report

2010 ◽  
Vol 4 (1) ◽  
Author(s):  
Anand Pandey ◽  
Ajay N Gangopadhyay ◽  
Vijayendra Kumar ◽  
Shiv P Sharma
Keyword(s):  
Case Report ◽  
Anorectal Malformation

scholarly journals Nasal Epithelial Myoepithelial Carcinoma: An Unusual Cause of Epiphora, a Case Report and Review of the Literature

2015 ◽  
Vol 6 (2) ◽  
pp. ar.2015.6.0127 ◽  
Author(s):  
Juliette O. Flam ◽  
Christopher D. Brook ◽  
Rachel Sobel ◽  
John C. Lee ◽  
Michael P. Platt
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Nasal Cavity ◽  
Surgical Excision ◽  
Myoepithelial Carcinoma ◽  
Review Of The Literature ◽  
Nasal Symptoms ◽  
First Case ◽  
Nasal Tumor ◽  
Epithelial Myoepithelial Carcinoma

Introduction Epithelial myoepithelial carcinoma (EMC) of the nasal cavity is a rare tumor, and here we describe the first case of EMC of the nasal cavity presenting with epiphora. A case presentation and review of the literature is provided. Methods A case report is described of a 63-year-old man who presented with unilateral epiphora and was found via a thorough history and physical examination to have a nasal tumor. The physical examination consisted of an ocular examination, including probing and irrigation, and a detailed nasal examination (anterior rhinoscopy, nasal endoscopy). The nasal examination was prompted by the patient's report of concurrent nasal symptoms during history taking. Immunohistochemistry subsequently identified the nasal tumor as EMC. A literature search was performed to gain insights into similar malignancies of the nasal cavity. Results Eight cases of EMC of the nasal cavity were identified in the literature, none of the patients presented with epiphora. The case presented here resulted in resolution of the patient's symptoms and no evidence of disease after surgical excision. Conclusion Epithelial myoepithelial is a rare salivary gland malignancy that can arise in the nasal cavity. Unilateral epiphora with concurrent nasal symptoms should prompt nasal cavity examination for the possibility of an obstructive tumor.

scholarly journals Misuse of ultrasound for palpable undescended testis by primary care providers: A prospective study

2015 ◽  
Vol 9 (11-12) ◽  
pp. 387 ◽  
Author(s):  
Nathan C Wong ◽  
Rahul K Bansal ◽  
Armando J Lorenzo ◽  
Jorge DeMaria ◽  
Luis H Braga
Keyword(s):  
Primary Care ◽  
Physical Examination ◽  
Likelihood Ratio ◽  
Predictive Value ◽  
Undescended Testis ◽  
Positive Likelihood Ratio ◽  
Negative Likelihood Ratio ◽  
Primary Care Providers ◽  
Care Providers ◽  
Hospital Patients

<p><strong>Introduction:</strong> Although previous evidence has shown that ultrasound is unreliable to diagnose undescended testis, many primary care providers (PCP) continue to misuse it. We assessed the performance of ultrasound as a diagnostic tool for palpable undescended testis, as well as the diagnostic agreement between PCP and pediatric urologists.</p><p><strong>Methods:</strong> We performed a prospective observational cohort study between 2011 and 2013 for consecutive boys referred with a diagnosis of undescended testis to our tertiary pediatric hospital. Patients referred without an ultrasound and those with non-palpable testes were excluded. Data on referring diagnosis, pediatric urology examination and ultrasound reports were analyzed.</p><p><strong>Results:</strong> Our study consisted of 339 boys. Of these, patients without an ultrasound (n = 132) and those with non-palpable testes (n = 38) were excluded. In the end, there were 169 pateints in this study. Ultrasound was performed in 50% of referred boys showing 256 undescended testis. The mean age at time of referral was 45 months. When ultrasound was compared to physical examination by the pediatric urologist, agreement was only 34%. The performance of ultrasound for palpable undescended testis was: sensitivity = 100%; specificity = 16%; positive predictive value = 34%; negative predictive value = 100%; positive likelihood ratio = 1.2; and negative likelihood ratio = 0. Diagnosis of undescended testis by PCP was confirmed by physical examination in 30% of cases, with 70% re-diagnosed with normal or retractile testes.</p><p><strong>Conclusion:</strong> Ultrasound performed poorly to assess for palpable undescended testis in boys and should not be used. Although the study has important limitations, there is an increasing need for education and evidence-based guidelines for PCP in the management of undescended testis.</p>

Symmetrical brachydactyly in a dog

2017 ◽  
Vol 30 (04) ◽  
pp. 306-309
Author(s):  
Ursula Krotscheck ◽  
Anthony Fischetti ◽  
Kim Tong ◽  
Megan Cray
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Congenital Malformations ◽  
General Term ◽  
Abnormal Development ◽  
Unaffected Sibling ◽  
Radiographic Imaging ◽  
One Year

SummaryCongenital malformations of the canine manus and pes are infrequently reported in the veterinary literature. This includes brachydactyly which is a general term used to indicate the shortening of digits due to abnormal development of the phalanges, metacarpals, or metatarsals. This case report describes isolated brachydactyly in a one-year-old male Maremma Sheepdog affecting all of the phalanges, metacarpals, and metatarsals of digits two through five. This condition was confirmed by determining the length of each phalanx, metacarpal, and metatarsal of the affected dog as well as an unaffected littermate. The affected dog’s metacarpal, metatarsal, and phalanx lengths ranged from 50% to 77% of that of the unaffected sibling. Other abnormalities found on physical examination as well as on radiographic imaging are discussed.

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