Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 7 de 7
Filter
Add more filters










Database
Language
Publication year range
1.
Acta Endocrinol (Buchar) ; 19(4): 487-496, 2023.
Article in English | MEDLINE | ID: mdl-38933245

ABSTRACT

Context: Children having gonadal tumors and disorder of sex differentiation (DSD) are rare. Objective: To investigate the presentation of DSD children with malignant gonadal tumors. Methods: A retrospective study from 2010-2020, that evaluated 17 children with DSD, including 13 females, eight months to 16 years, with congenital adrenal hyperplasia, 5-alpha reductase deficiency, androgen insensitivity syndrome, Turner, Sywer, and Klinefelter syndromes. Results: Ten children had malignant gonadal tumor; nine had germ cell tumors and one person granulosa cell tumors, while seven children with non-malignant tumor had gonadoblastoma, cystadenoma (five children), and cysts. Systemic malformations, obesity, elevated tumor markers, and psychosocial issues were observed in 90%, 90%, 70%, and 50% of children with malignancy unlike 28.6%, 42.9%, 14.35%, and 57.1% children without malignancy respectively. Most (9/10) children >12 years, had psychosocial issues, unlike 0/7 children ≤12 years. From 8/17 children presenting with symptoms suggestive of tumor, 75% had malignancy, while from 9/17 children with DSD presentation, 44% had malignant tumors. Malignancy was observed in 3/10 children between eight months to age six, while 7/10 children had stage 1-2 tumors. We reported a child, identified as female, aged 13 years, with partial androgen insensivity syndrome (PAIS) 46,XY, and testicular papillary serous cystadenoma with genomic variant AR NM_000044.4:c.2750del. p.(F917Sfs*27) chromosome Xq12, never published in people with PAIS nor population databases (GnomAD). Conclusion: DSD diagnosis raises numerous challenges. People with DSD have increased risk of malignancy, especially when obesity and, systemic malformations are present; also, psychosocial issues in these children are associated with postpubertal age.

2.
Eur Rev Med Pharmacol Sci ; 20(23): 4980-4984, 2016 12.
Article in English | MEDLINE | ID: mdl-27981534

ABSTRACT

OBJECTIVE: The aim of the present study was to evaluate the anxiolytic properties of the new isoxazoline compounds BTG1640 and BTG1675A in comparison with diazepam. MATERIALS AND METHODS: We evaluated the ultrasonic distress emission in both sexes of neonatal rat pups (which seems to be a sensitive indicator of the rat emotional reactivity and represents a valuable tool to screen compounds with expected anxiolytic properties) and the locomotor activity in 30-day old rat pups. RESULTS: We found a significant reduction in the number of emitted ultrasonic calls only after i.p. administration of diazepam 1 mg/kg, while no significant reduction have been detected after i.p. administration of BTG 1640 and BTG 1675A. Furthermore, we found a significant reduction of locomotor activity in the first 10' of the test, only in the group treated with diazepam 0.1 mg. CONCLUSIONS: The tests validating the supposed anxiolytic properties of the new isoxazoline compounds BTG1640 and BTG1675A, in comparison with diazepam, gave negative results.


Subject(s)
Diazepam/pharmacology , Motor Activity/drug effects , Ultrasonics , Animals , Anti-Anxiety Agents , Female , Isoxazoles , Male , Rats
3.
Med Princ Pract ; 23(4): 384-6, 2014.
Article in English | MEDLINE | ID: mdl-24334858

ABSTRACT

OBJECTIVE: To report a case of type 2 Antley-Bixler syndrome (ABS). SUBJECT AND METHODS: A 3-year-old boy who had been raised male, with facial dimorphism and malformations of both elbows and forearms, was referred to our unit for ambiguous genitalia. Genetic testing confirmed the diagnosis of ABS. A surgical intervention was performed to correct the ambiguous genitalia through a combined perineal and transabdominal approach. RESULTS: The postoperative course was uneventful and the patient was released from the hospital 10 days after the surgery. CONCLUSION: Repair of the ambiguous genitalia in this patient was possible, but definitive inferences on the benefit of this intervention cannot be made without long-term follow-up.


Subject(s)
Antley-Bixler Syndrome Phenotype/diagnosis , Disorders of Sex Development/surgery , Child, Preschool , Humans , Male , Sex Characteristics
4.
Rom J Morphol Embryol ; 54(3 Suppl): 839-43, 2013.
Article in English | MEDLINE | ID: mdl-24322037

ABSTRACT

Nasopharyngeal carcinoma is the predominant tumor type arising in the nasopharynx with cervical lymph nodes present in 60-90% of all cases at the time of presentation. The most frequent pathological varieties include squamous cell carcinoma well-differentiated keratinizing, moderately differentiated non-keratinizing and an undifferentiated type. We present a case of non-keratinizing undifferentiated carcinoma of the nasopharynx with parapharyngeal and middle cranial fossa space involvement in an 18-year-old male who has been admitted in our hospital for recurrent right ear otitis media. Symptoms consisted in mild conductive hearing loss, trigeminal V2 nerve anesthesia, right ear tinnitus, mild dysphagia, mild dysphonia, right hypoglossal nerve paralysis and right Claude Bernard-Horner's syndrome. Clinical examination revealed no lymph node masses, chest X-ray corresponding to a normal thoracic image. Cranial contrast enhanced CT scan showed a non-homogenous mass of 5.4/4.5/5.5 cm from the level of the right rhinopharyngeal wall, extending in the right parapharyngeal space, invading the right middle cranial fossa. Cranial MRI with contrast enhancement revealed a rhino- and parapharyngeal mass of 5.5/4.6/5.3 cm with intracerebral extension in the right cavernous sinus, right internal carotid artery being engulfed by the tumor mass with partial compression. Several lymph node masses of 1.7/1.2 cm were also revealed. We performed rhinopharyngeal biopsy, right tympanotomy and grommet tube insertion. The tissue specimens were processed with routine histological technique. Subsequent immunohistochemical reactions for pan-cytokeratin AE1/AE3 and leukocytes common antigen were performed. The histological examination of routine stained slides showed that malignant tumor cells had a syncytial pattern of growth in a background of small lymphocytes. The positivity of tumor cells for pan-cytokeratin established the final diagnosis of non-keratinizing undifferentiated carcinoma. The age of onset, the clinical signs and symptoms and minimum involvement of lymph nodes represents the particular aspects of the case.


Subject(s)
Carcinoma/pathology , Keratins/metabolism , Nasopharyngeal Neoplasms/pathology , Adolescent , Giant Cells/pathology , Humans , Magnetic Resonance Imaging , Male , Nasopharyngeal Carcinoma
5.
Chirurgia (Bucur) ; 108(2): 189-92, 2013.
Article in English | MEDLINE | ID: mdl-23618568

ABSTRACT

Esophageal atresia (EA) is the most common malformation of the esophagus. Primary anastomosis is achievable in more than 90% of the cases and the milestone of the surgical intervention is achieving a watertight, low-tension anastomosis of the esophageal pouches. The purpose of this paper is to present a new method for releasing tension in the anastomosis and also to provide a safe way for enteral feeding in children with primarily repaired EA. From 2000 to 2012 twenty-one patients underwent primary esophageal anastomosis for EA in our department. During the surgical intervention, a 12-french Foley catheter is inserted through one of the nostrils, through the esophagus down to the site of the anastomosis and passed by into the stomach. After surgery, continuous gentile traction is maintained on the catheter for several days. We had no postoperative disruption of the anastomosis and anastomotic leaks occurred in 1 of the 21 cases. Overall survival rate was 67%. Using the Foley catheter to protect the anastomosis and to release the tension of the sutures provides a cheap and effective means to improve the outcomes of the treatment of EA.


Subject(s)
Anastomosis, Surgical/instrumentation , Catheters , Esophageal Atresia/surgery , Infant, Premature, Diseases/surgery , Anastomosis, Surgical/adverse effects , Anastomosis, Surgical/methods , Esophageal Atresia/mortality , Female , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases/mortality , Male , Pneumonia, Bacterial/etiology , Pneumonia, Bacterial/prevention & control , Risk Factors , Romania/epidemiology , Survival Rate
6.
Rom J Morphol Embryol ; 52(2): 625-9, 2011.
Article in English | MEDLINE | ID: mdl-21655653

ABSTRACT

Pectus excavatum (PE) is the most frequent anterior chest deformity occurring in approximately one of 1000 live births. Despite the excellent achievements in the treatment of the disease, the etiology of PE is yet to be clarified. It is believed that the cause for PE is an intrinsic costal cartilage abnormality leading to an overgrowth of the cartilage, which pushes the sternum backward. Several histological studies revealed contradictory results and failed to identify a clear structural abnormality of the costal cartilage responsible for the apparition of PE. In this article, we focused on identifying the microscopic disturbances of the costal cartilage in patients with PE. We obtained cartilage samples from 29 children with PE and 18 control cartilage samples. The samples were subjected to morphologic, morphometrical and histochemical assess. The results indicate a young, immature pattern of the cartilage matrix with a normal cell/matrix ratio. These results sustain the theory that the cause of PE is to be found inside the costal cartilage and the most plausible cause is a global overgrowth of the costal cartilage.


Subject(s)
Cartilage/abnormalities , Cartilage/pathology , Funnel Chest/pathology , Ribs/abnormalities , Ribs/pathology , Adolescent , Cell Count , Child , Child, Preschool , Collagen/metabolism , Histocytochemistry , Humans , Staining and Labeling , Young Adult
7.
Chirurgia (Bucur) ; 105(2): 203-10, 2010.
Article in English | MEDLINE | ID: mdl-20540233

ABSTRACT

INTRODUCTION: Pectus excavatum (PE) is the most frequent anterior chest deformity and occurs in approximately 1 in 1000 live births. In 1998 Donald Nuss introduced a new minimal invasive operative technique for PE which avoids any cartilage resection or sternum osteotomy. PURPOSE: The purpose of this study is to assess the short and medium time results after minimal invasive correction of pectus excavatum and to present our improvements to the original Nuss technique. MATERIAL AND METHODS: During a two years period seven PE patients were treated by us using Nuss technique. The intervention represents a premiere because it was the first Nuss operation performed by a team composed exclusively by Romanian surgeons. We present you the seven cases, our operative technique and the short and medium term outcomes. MAIN RESULTS: No itraoperative incidences were recorded. Postoperative course was good for all patients. Complication occurred in three cases: two pleural effusions and a wound dehiscence. They have been all successfully resolved with no further events. Overall the therapeutic and cosmetic results were considered good by patients and their parents. CONCLUSION: Preliminary results indicate that Nuss operation for PE correction is a safe surgical technique with excellent cosmetic outcomes. More cases and long time results are necessary to fully evaluate this technique.


Subject(s)
Funnel Chest/surgery , Orthopedic Procedures/instrumentation , Orthopedic Procedures/methods , Thoracoscopy/methods , Adolescent , Child , Female , Funnel Chest/complications , Funnel Chest/diagnosis , Humans , Internal Fixators , Male , Minimally Invasive Surgical Procedures , Orthopedic Procedures/adverse effects , Patient Satisfaction , Pleural Effusion/etiology , Pleural Effusion/surgery , Quality of Life , Retrospective Studies , Surgical Wound Dehiscence/etiology , Surgical Wound Dehiscence/surgery , Thoracoscopy/adverse effects , Treatment Outcome , Young Adult
SELECTION OF CITATIONS
SEARCH DETAIL
...