Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

2019 ◽  
Vol 13 (4) ◽  
pp. 171-177 ◽  
Author(s):  
Juliana G.R. Andrade ◽  
Helena Fabbri-Scallet ◽  
Ana P. dos Santos ◽  
Martine Cools ◽  
Ralf Werner ◽  
...  
2002 ◽  
Vol 41 (01) ◽  
pp. 37-41 ◽  
Author(s):  
S. Shung-Shung ◽  
S. Yu-Chien ◽  
Y. Mei-Due ◽  
W. Hwei-Chung ◽  
A. Kao

Summary Aim: Even with careful observation, the overall false-positive rate of laparotomy remains 10-15% when acute appendicitis was suspected. Therefore, the clinical efficacy of Tc-99m HMPAO labeled leukocyte (TC-WBC) scan for the diagnosis of acute appendicitis in patients presenting with atypical clinical findings is assessed. Patients and Methods: Eighty patients presenting with acute abdominal pain and possible acute appendicitis but atypical findings were included in this study. After intravenous injection of TC-WBC, serial anterior abdominal/pelvic images at 30, 60, 120 and 240 min with 800k counts were obtained with a gamma camera. Any abnormal localization of radioactivity in the right lower quadrant of the abdomen, equal to or greater than bone marrow activity, was considered as a positive scan. Results: 36 out of 49 patients showing positive TC-WBC scans received appendectomy. They all proved to have positive pathological findings. Five positive TC-WBC were not related to acute appendicitis, because of other pathological lesions. Eight patients were not operated and clinical follow-up after one month revealed no acute abdominal condition. Three of 31 patients with negative TC-WBC scans received appendectomy. They also presented positive pathological findings. The remaining 28 patients did not receive operations and revealed no evidence of appendicitis after at least one month of follow-up. The overall sensitivity, specificity, accuracy, positive and negative predictive values for TC-WBC scan to diagnose acute appendicitis were 92, 78, 86, 82, and 90%, respectively. Conclusion: TC-WBC scan provides a rapid and highly accurate method for the diagnosis of acute appendicitis in patients with equivocal clinical examination. It proved useful in reducing the false-positive rate of laparotomy and shortens the time necessary for clinical observation.


1996 ◽  
Vol 35 (04) ◽  
pp. 116-121 ◽  
Author(s):  
G. E Fueger ◽  
M. Vejda ◽  
R. M. Aigner

Summary Aim: To prevent orthopedic sequelae in acute hematogenous pyogenic osteomyelitis (AHPO) of infants early diagnosis, recognition of recurrence and effective therapy is needed. This retrospective study of 47 infants with bacteriologically confirmed AHPO concerned with an analysis of the diagnostic value of systemic serum parameters compared to bone scintigraphy (BSC). Methods: AHPO was characterized initially and during the course of disease by clinical findings, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), total and differential white blood cell (WBC) count, BSC, and plain radiography. Results: CRP was the most effective serum parameter for follow- up of disease. The first sign of BSC to signal adequate response to antibiotic treatment was the decrease or normalization of hyperperfusion. Escape from therapy or poor prognosis, even when the serum parameters were normalized, was signaled by the recurrence of focal hyperperfusion and the persistent or increasing local uptake ratios on the 3-h-image over 6 weeks during a course of antibiotic treatment. Conclusion: Antibiotic treatment masks the clinical presentation, and the radiographic findings, causes non-characteristic laboratory findings, but do not prevent the scintigraphic visualization; BSC and serum parameters used in the right completion are the most successful and efficient modalities for follow-up of AHPO. Maintenance of antibiotic therapy should be done until BSC findings have reverted to normal.


Author(s):  
Dheeraj Kumar Tyagi ◽  
Shivakumar .

Lifestyle disorders are one of the biggest threats for the population living unhealthy lifestyle. Sthoulya (Obesity) is one such disorder which creates lot of physical as well as mental disorder to the sufferer. Due to changing lifestyle, comforts and dietary habit lots of individuals changed their life totally. Obesity is a growing disease in developed and developing countries. Prevalence is drastically hike in past few years. Ayurveda, the science of life with which we can manage and control lots of lifestyle disorders. Focusing on dietary and lifestyle management along with treatment, we can overcome the hazards of obesity which is growing in a uncontrolled manner. The available data is based on the clinical findings only. Aim and objective: To assess the effect of “Guru Cha Atarpanam Chikitsa” in the management of Sthoulya. Setting: Swastharakshana evam Yoga, OPD and IPD, SDMCAH, Hassan. Method: Udwarthana, Parisheka, Shamana Aushadhis, Ahara, and Vihara was followed within the treatment duration and effect of treatment was assessed before and after treatment, advised for follow up. Results: The treatment adopted is effective in the management of Sthoulya and to improve the quality of life.


2011 ◽  
Vol 7 (2) ◽  
pp. 161-164 ◽  
Author(s):  
George Chater-Cure ◽  
Caitlin Hoffman ◽  
Jared Knopman ◽  
Samuel Rhee ◽  
Mark M. Souweidane

Object Surgical treatment for periorbital inclusion cysts typically involves a brow, pterional, or partial bicoronal scalp incision for sufficient exposure. The authors have recently employed an endoscopy-assisted technique as an alternative approach intended to minimize the length of the skin incision and avoid scarring in the brow. Methods Children having typical clinical findings of a dermoid cyst located on the hairless forehead were selected to undergo endoscopy-assisted cyst removal. For suspected intradiploic lesions, MR imaging was used to assess osseous involvement. After induction of general anesthesia, a 1–2-cm curvilinear incision was made posterior to the hairline. A 30°-angled endoscope (4 mm) was then used for dissection in the subgaleal compartment. Subgaleal dissection was followed by a circumferential periosteal incision in which the authors used an angled needle-tip unipolar cautery. For lesions within the diploe, a high-speed air drill was used to expose the lesion. Complete removal was accomplished with curettage of either the skull or dural surface. Results Eight patients (5–33 months of age) underwent outpatient endoscopic resection. Seven cysts were extracranial, and 1 cyst extended through the inner table. In all patients complete excision of the cyst was achieved. There was negligible blood loss, no dural violation, and no postoperative infection. There have been no recurrences at a mean follow-up of 15 months. Conclusions Endoscopy-assisted resection of inclusion cysts of the scalp and calvaria is a safe and effective surgical approach. The technique results in negligible incisions with less apparent scarring compared with previously described incisions. This limited-access technique does not appear to be associated with a higher incidence of cyst recurrence.


2021 ◽  
pp. 112067212199767
Author(s):  
Iva Krolo ◽  
Aida Kasumović ◽  
Ivana Radman ◽  
Pavao Pavić

Purpose: Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, this is the first report of corneal cross-linking for halting the progression of keratoconus in a patient with Alport syndrome. Case report: A 22-year-old male was referred for his initial corneal topography, after he was already prescribed with rigid gas-permeable contact lenses. Alport syndrome was diagnosed in his infancy and gene COL4A5 mutation was confirmed. Ophthalmological evaluation confirmed keratoconus. One-year follow-up showed a progression on his right eye and standard corneal cross-linking was performed. Stabilization of the disease marked by normalization in visual function and corneal tomography values was noticed 1 year after the procedure. Conclusions: When diagnosing ocular clinical findings of Alport syndrome, keratoconus should be considered. Standard corneal cross-linking protocol can halt its progression.


2012 ◽  
Vol 102 (3) ◽  
pp. 187-197 ◽  
Author(s):  
David W. Jenkins ◽  
Kimbal Cooper ◽  
Rachel O’Connor ◽  
Liane Watanabe

Background: Improperly fitted shoes are frequently seen in athletes participating in Special Olympics competitions. This foot-to-shoe mismatch may result in deformities as well as discomfort and reduced performance or injuries in competitions. A primary purpose for providing medical screenings is to identify conditions unknown and to promptly refer to an appropriate provider for evaluation and care. This study attempts to determine the prevalence of improperly fitted shoes and the rate of referral for Special Olympics athletes screened at Fit Feet venues. Methods: To evaluate the foot-to-shoe mismatch and rate of referral, 4,094 Fit Feet screenings of Special Olympics athletes participating in US competitions in 2005 to 2009 were analyzed. The participants were 58.5% male and 41.5% female, with a median age of 25.6 years. A power analysis and the χ2 test were used. The athletes voluntarily underwent a foot screening that followed the standardized Special Olympics Fit Feet protocol. The Brannock Device for measuring feet was used to assess proper fit. Results: A proper fit was found in 58.56% of the athletes, with 28.60% wearing shoes too big and 12.84% wearing shoes too small. Unrelated to shoe fit, 20% of the athletes required referrals for professional follow-up based on abnormal clinical findings. Conclusions: There is a significant (41.44%) mismatch of foot to shoe in Special Olympics athletes. The most common mismatch is a shoe too big, with a much smaller number of athletes having shoes too small. Awareness of this foot-to-shoe incompatibility may be useful for the development of shoes better designed for athletes with a foot structure not consistent with conventional shoes. Because 20% of the athletes required a referral for professional follow-up, Fit Feet examinations are important for identifying athletes with conditions that can be more readily evaluated and treated, thus improving the athletes’ comfort and performance. Beyond knowing the rate of referral, future studies can determine the conditions or findings that necessitate a referral and the ultimate outcome of that referral. (J Am Podiatr Med Assoc 102(3): 187–197, 2012)


2021 ◽  
Author(s):  
Ouidade A. Tabesh ◽  
Roba Ghossan ◽  
Soha H Zebouni ◽  
Rafic Faddoul ◽  
Michel Revel ◽  
...  

Abstract Aim. To evaluate ultrasonography findings of Thoracolumbar Fascia (TLF) enthesis in patients with low back pain (LBP) due to iliac crest pain syndrome (ICPS). Method. The ultrasonographic and clinical findings of 60 patients with LBP due to ICPS were compared to those of 30 healthy volunteers with no LBP. Thickness of the TLF was measured with ultrasound (US) at its insertion on the iliac crest. Results. Forty-eight women and 12 men with a mean age of 42.1±11.3 years were diagnosed with ICPS. In patients, the mean thickness of the TLF was 2.51±0.70mm in affected sides compared to 1.81±0.44mm in the contralateral unaffected sides. The mean thickness difference of 0.82mm between the affected and non-affected sides was statistically significant (95%CI, 0.64-0.99, P<0.0001). In volunteers, the mean thickness of the TLF was 1.6±0.2mm. The mean thickness difference of 0.89mm between the affected sides of patients and volunteers was statistically significant (95%CI, 0.73-1.06, P<0.0001). Forty-two patients who didn’t improve with conservative therapy, received injections of methylprednisolone acetate and 1% lidocaine around the TLF enthesis. All patients reported complete relief of their LBP within 20 minutes of the injections thanks to the lidocaine anesthetic effect. Fifty-six (93.3%) patients were reached by phone for a long-term follow-up. Among them, 33 (58.9%) patients experienced a sustained complete pain relief after a mean follow-up of 45±19.3 months (range, 3-74 months). Conclusion. our findings suggest that TLF enthesopathy is a potential cause of nonspecific LBP that can be diagnosed using US.


2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Massimo Accorinti ◽  
Giovanni Spinucci ◽  
Maria Pia Pirraglia ◽  
Simone Bruschi ◽  
Francesca Romana Pesci ◽  
...  

Purpose. To study epidemiology, clinical findings and visual prognosis of patients with Fuchs’ Heterochromic Iridocyclitis (FHI).Methods. A retrospective analysis was performed on 158 patients with FHI. Thirty-five patients were observed only once; the remaining 123 had a mean follow-up of 30.7 months (50 of them had a mean follow-up of 63.5 months) and in those we assessed complications, medical and surgical treatment, and long-term visual prognosis.Results. Average age at uveitis diagnosis was 27.2 years and 18.3% of patients were children. Blurred vision (54.5%) and floaters (40.5%) were the most frequent presenting symptoms. Small to medium-sized keratic precipitates (95.6%), iris atrophy (86.8%), and vitreous opacities (91.2%) were the most common signs; the prevalence of cataract and IOP increase was 63.5% and 20.1%, respectively, and their incidence was 0.1 and 0.06 eye/year. Significant risk factor for visual loss was IOP increase at presentation (p=0.02). At final examination 98% of the eye had a visual acuity ≥ 0.6, and topical (p<0.001) and systemic (p<0.001) corticosteroids therapy were used less frequently than before referral.Conclusions. FHI has a good visual prognosis, despite the significant incidence of cataract and glaucoma. A correct and prompt diagnosis might avoid unnecessary therapies and provide excellent visual outcomes.


2017 ◽  
Vol 15 (4) ◽  
Author(s):  
David Francis Fullon Chan ◽  
Ma. Dominga B. Padilla

PURPOSE: There are currently no published studies on the outcomes of keratoplasty in the Philippines.  This study aimed to report graft survival rates at years 1, 3, and 5 after surgery, visual outcomes, and causes of graft failure among private patients of corneal surgeons in Metropolitan Manila receiving tissue from a single local eye bank in the period 2008-2012.  DESIGN: Retrospective cohort, multicenter study. METHODS: POPULATION: Private patients of Metro Manila corneal surgeons, receiving tissue from the Santa Lucia International Eye Bank of Manila in 2008-2012.  241 of 593 yielded sufficiently complete data sets. PROCEDURE: Donor and tissue characteristics, pre-op and latest follow-up characteristics/clinical findings were retrieved and processed. Data from the eye bank was merged with follow-up data from surgeons submitted March-October 2014. MAIN OUTCOME MEASURES: Survival rates at 1, 3, and 5 years; best-corrected visual acuity as of latest follow-up; causes of failure. RESULTS:  1-year survival: 90.4%, 3-year: 71.5%, 5-year: ~52.7%. Overall, 43.5% had VA of 20/50 or better, and 25% counting fingers or worse, with variations across diagnoses. CONCLUSION: Though small in sample size and response rate, survival trends parallel studies with larger populations elsewhere. Specific trends like favorable survival in keratoconus were consistent. Indications for surgery have changed little since 2005, but regraft has become the most common indication. Further data collection and completion are required for multivariate analysis on factors regarding survival.  Inflammation, infection, trauma, poor adherence are among the identified reasons for failure.  


2021 ◽  
Vol 103 (1) ◽  
pp. 53-58
Author(s):  
E Qiao ◽  
Y Wang ◽  
Z Huang ◽  
F Li ◽  
W Wang

Introduction Primary benign right ventricular tumours are rare. They can cause significant mortality without appropriate and timely treatment. We investigated surgical treatment and survival characteristics for right ventricular tumours. Materials and methods From 2007 to 2017, 21 patients with primary benign right ventricular tumours who underwent tumour resection were retrospectively reviewed. Clinical findings and follow-up results were analysed. Results Thirteen men and eight women were enrolled, with a mean age of 42.3 ± 15.3 years. The most frequent histotypes were myxoma, haemangioma and papillary fibroelastoma. Eight patients underwent concomitant tricuspid valvuloplasty and one had tricuspid valve replacement. No major adverse events or death occurred during the perioperative period. One patient with haemangioma underwent partial tumour resection; however, the tumour regressed gradually during follow-up. Within the 10-year follow-up period (mean 4.8 ± 2.6 years), the recurrence-free and overall survival rates were 81.0% and 85.7%, respectively. Conclusions Tumour resection for primary benign right ventricular tumours is safe and effective, and has a good prognosis. Tricuspid valvuloplasty or tricuspid valve replacement may be necessary for the resection of right ventricular tumours to improve the haemodynamics. Haemangiomas naturally undergo spontaneous regression.


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