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1.
Eur Rev Med Pharmacol Sci ; 27(21): 10446-10453, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37975368

ABSTRACT

OBJECTIVE: The present research aimed to study the possible protective effects of Silymarin on testicular I/R injury in a rat model evaluated through histopathology and biochemical parameters. MATERIALS AND METHODS: This research investigated the impact of Silymarin on IR damage in male Wistar albino rats. Animals were divided into three groups: group 1 (sham), group 2 (IR), and group 3 (IR+Silymarin). RESULTS: There were no notable differences in the levels of malondialdehyde (MDA), myeloperoxidase (MPO), and glutathione (GSH) across the three groups (p=0.260, p=0.486 and p=0.803, respectively). Contrarily, the total antioxidant status (TAS) levels exhibited significant variations between groups (p=0.001). The total oxidant status (TOS) levels also differed significantly between groups (p=0.004). The tissue evaluations uncovered substantial differences in the Johnson score, which is used to gauge testicular damage. A distinct contrast was seen between Group 1 and Group 2, and also between Group 2 and Group 3, with an all-encompassing p-value lower than 0.01. The same significant disparities were found for the percentages of Bax and Annexin V immunostaining (p<0.01 for each), reflecting the inflammation and apoptosis brought about by ischemia-reperfusion and the protective effects of the treatment. CONCLUSIONS: The outcomes of the current investigation showed that Silymarin could be a valuable agent for reducing testicular tissue damage following I/R injury.


Subject(s)
Reperfusion Injury , Silymarin , Spermatic Cord Torsion , Humans , Rats , Male , Animals , Spermatic Cord Torsion/drug therapy , Spermatic Cord Torsion/metabolism , Spermatic Cord Torsion/pathology , Rats, Wistar , Silymarin/pharmacology , Oxidative Stress , Reperfusion Injury/metabolism , Testis , Antioxidants/pharmacology , Antioxidants/metabolism , Glutathione/metabolism , Malondialdehyde/metabolism
2.
Niger J Clin Pract ; 25(9): 1517-1522, 2022 Sep.
Article in English | MEDLINE | ID: mdl-36149213

ABSTRACT

Background: Morgagni hernia (MH) is a rare congenital defect of the diaphragm. Although the various surgical method has been proposed, there is no surgical consensus. Aim: In this study, we aimed to report the outcome of the patients that underwent surgery which is completed using a single port laparoscopic-assisted transabdominal closure of MH. Patients and Methods: This is a retrospective analysis of 18 pediatric patients who underwent novel laparoscopic MH repair at a single tertiary pediatric hospital between March 2018 and December 2020. Results: Of the 18 patients, 72% (n = 13) were male and 28% (n = 5) were female. The symptoms at admission included repeated chest infection (39%), dyspnea (33%), vomiting (17%), and abdominal pain (22%). The colon (78%) was the most frequently herniated organ. Hernias were bilateral, on the left, and on the right in seven, four, and seven cases, respectively. All surgical interventions were completed within 25-50 min. All patients started enteral feeding within 24 hours. All patients were discharged within 1-3 days without any complications. The mean follow-up period was 27 months. Conclusions: In conclusion, our method is characterized by a shorter operation time, early return to feeding, early discharge, excellent cosmetic results, low cost, and low recurrence rate. Further prospective trials are needed to compare our novel scarless technique to other methods.


Subject(s)
Hernias, Diaphragmatic, Congenital , Laparoscopy , Child , Female , Hernias, Diaphragmatic, Congenital/diagnosis , Hernias, Diaphragmatic, Congenital/surgery , Herniorrhaphy/methods , Humans , Laparoscopy/methods , Male , Patient Discharge , Retrospective Studies
3.
Niger J Clin Pract ; 22(1): 113-116, 2019 Jan.
Article in English | MEDLINE | ID: mdl-30666029

ABSTRACT

AIM: We report the results of the surgical treatment of symptomatic urachal cysts. MATERIALS AND METHODS: The medical records of patients who underwent urachal cyst excision between 2012 and 2017 were reviewed retrospectively at our hospital. The age, sex, presenting complaint, method of diagnosis, average cyst diameter, surgical procedure, and postoperative complications of each patient were recorded. RESULTS: Twenty-seven patients who had urachal cyst were included in this study; 5 out of 27 patients were treated conservatively and the rest of patients were treated surgically, made up of 16 males (72%) and 6 females (28%). The average age of the patients was 7 years (range: 1-17). The most common reason for referral was abdominal pain in 12 patients (54%), discharge in 6 patients (28%), fever in 2 patients (9%), and an abdominal mass in 2 patients (9%). An ultrasound scan was performed in all patients as an initial imaging study. The average cyst diameter was 1.5 cm (range: 1-6 cm). Laparotomy was performed in 16 patients, with 6 patients undergoing laparoscopic excision. Postoperative wound infection developed in two patients. CONCLUSIONS: Patients with urachal cysts may be managed conservatively initially. However, patients who do not show any clinical and radiological signs of regression, or those who have large cysts, should undergo surgical excision through laparotomy or a laparoscopic approach.


Subject(s)
Laparoscopy , Laparotomy , Ultrasonography/methods , Urachal Cyst/surgery , Abdominal Pain/etiology , Adolescent , Child , Child, Preschool , Female , Fever/etiology , Humans , Infant , Male , Patient Discharge , Postoperative Complications , Retrospective Studies , Surgical Wound Infection , Urachal Cyst/diagnostic imaging
4.
Biotech Histochem ; 94(3): 180-188, 2019 Apr.
Article in English | MEDLINE | ID: mdl-30409033

ABSTRACT

Laurocerasus officinalis Roem. (syn: Prunus laurocerasus L.) is a member of Rosaceae family. We investigated the antimicrobial and antioxidant activity of L. officinalis Roem in wound healing both in vivo and in vitro using an excisional wound model model in mice. We used four groups of eight mice as follows: untreated (control), empty gel, extract + gel (L. officinalis + gel), and Madecassol® groups. All treatments were applied topically once daily. The scar area, percentage wound closure and epithelization time were measured. L. officinalis promoted wound healing and increased granulation tissue, epidermal regeneration and angiogenesis. L. officinalis extract, which is known for its antioxidant and antimicrobial activities, may be useful for promoting wound healing.


Subject(s)
Plant Extracts/pharmacology , Rosaceae/chemistry , Wound Healing/drug effects , Animals , Anti-Bacterial Agents/chemistry , Anti-Bacterial Agents/pharmacology , Methanol , Mice , Mice, Inbred BALB C , Plant Extracts/chemistry
5.
Eur J Trauma Emerg Surg ; 43(1): 99-104, 2017 Feb.
Article in English | MEDLINE | ID: mdl-26833463

ABSTRACT

INTRODUCTION: The management of severe renal trauma is disputable. Herein, we present diagnosis and treatment of patients with high-grade renal injury (grades IV and V). MATERIALS AND METHODS: The records of 31 patients with severe renal trauma who were treated between 2009 and 2014 were analyzed retrospectively. All patients' CT results were evaluated by two radiologists and assigned grades of IV or V in accordance with the American Association for the Surgery of Trauma Organ Injury Severity Scale. All hemodynamically stable renal trauma patients were treated conservatively. Patients with renal traumas of grade IV and V were evaluated statistically via the SPSS 15.0 software program. Chi-square and Mann-Whitney U tests were used to evaluate the categorical data. RESULTS: Thirteen (42 %) of 31 patients had grade IV, and 18 (58 %) had grade V renal traumas. Twenty-seven (87 %) of the patients had suffered blunt trauma, and four (13 %) had sustained penetrating injuries. Additional organ injuries were seen in 16 patients (52 %), and 15 (48 %) had no concurrent injuries. Twenty-five patients (89 %) were monitored conservatively, three (10 %) underwent surgery, and three patients with grade V renal trauma and additional organ injuries died. There was no statistically significant difference between the grade IV and grade V groups, except in hemoglobin values and the affected kidney (P = 0.07 and P = 0.02, respectively). CONCLUSIONS: Computerized tomography can help to grade renal injury and assess additional organ injuries quickly. Most children with high-grade renal injury can be managed conservatively. However, conservative management of renal traumas relies on a multidisciplinary approach. Additionally, surgical intervention is generally required in the face of hemodynamic instability or other concurrent organ injuries.


Subject(s)
Abdominal Injuries/therapy , Kidney/injuries , Wounds, Nonpenetrating/therapy , Wounds, Penetrating/therapy , Abdominal Injuries/diagnostic imaging , Adolescent , Child , Child, Preschool , Conservative Treatment , Female , Humans , Infant , Injury Severity Score , Kidney/diagnostic imaging , Male , Postoperative Complications , Retrospective Studies , Tomography, X-Ray Computed , Wounds, Nonpenetrating/diagnostic imaging , Wounds, Penetrating/diagnostic imaging
6.
Genet Couns ; 27(3): 285-293, 2016.
Article in English | MEDLINE | ID: mdl-30204958

ABSTRACT

The aim of the study was to compare the effects of three eNOS gene polymorphisms associated with congenital heart defects, between Down syndrome patients with and without cardiac anomalies. Transthoracic echocardiographic examinations and eNOS single-nucleotide polymorphisms were investigated on seventy-five patients, prospectively. The frequencies of mutant alleles in the eNOS promoter (the -786T/C polymorphism) and exon 7 mutant alleles (the 894G--->T polymorphism) were significantly higher in Down syndrome patients with and without cardiac anomalies. The frequency of the intron GIOT polymorphism did not significantly differ between patients with and without cardiac anomalies. We found a significant relationship between eNOS gene polymorphisms and the congenital heart defects in patients with Down syndrome. Screening for the presence or absence of eNOS polymorphisms may be useful to obtain preliminary data on the risk of congenital heart defects in patients with Down syndrome.


Subject(s)
Down Syndrome/genetics , Heart Defects, Congenital/genetics , Nitric Oxide Synthase Type III/genetics , Polymorphism, Genetic/genetics , Adult , Alleles , DNA Mutational Analysis , Down Syndrome/diagnosis , Exons/genetics , Female , Gene Frequency/genetics , Genetic Testing , Heart Defects, Congenital/diagnosis , Humans , Introns/genetics , Male , Phenotype , Promoter Regions, Genetic/genetics , Sex Factors
7.
Genet Couns ; 26(2): 233-6, 2015.
Article in English | MEDLINE | ID: mdl-26349194

ABSTRACT

MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an autosomal recessive disease caused from mutations of MLC1 gene. In the current case report, a case with MLC who had a homozygous mutation (c.448delC, p.Leul50 ser fsX11) on exon 6 of MLC1 gene is presented.


Subject(s)
Cysts/genetics , Hereditary Central Nervous System Demyelinating Diseases/genetics , Membrane Proteins/genetics , Child, Preschool , Cysts/pathology , Cysts/physiopathology , Exons/genetics , Hereditary Central Nervous System Demyelinating Diseases/pathology , Hereditary Central Nervous System Demyelinating Diseases/physiopathology , Homozygote , Humans , Male , Mutation
8.
Eur Rev Med Pharmacol Sci ; 18(10): 1507-12, 2014.
Article in English | MEDLINE | ID: mdl-24899610

ABSTRACT

AIM: Gastrointestinal tract duplications (GTD) are rare congenital abnormalities that can occur anywhere along the gastrointestinal tract. These anomalies may present as a single, multiple, or a vague pathologies. Diagnosing and treating these diseases may be difficult in some patients. We aimed to present 32 patients who were followed and treated in our clinic. PATIENTS AND METHODS: This study included the patients between 2000 and 2013. Evaluations included clinical presentations, diagnostic strategies and algorithms, surgical procedures and associated anomalies, and presence of ectopic tissue, complications, and prognosis. RESULTS: Common clinical presentations included vomiting (n=8; 25%), palpable abdominal mass (n=4; 13%). Twenty-eight patients (2 of them antenatally) were diagnosed preoperatively while four of them were diagnosed at surgery. Ileal duplications constituted the most common type (34%) while the least common ones were located in appendix, thoracoabdomen and rectum. One of our patients was present with a gastric duplication which was closely interconnected to a tubular duplication of esophagus, which had never been encountered in the literature before. CONCLUSIONS: It is crucial to note that duplications are likely to occur in various types and numbers and also may accompany other anomalies. Computed Tomography (CT) remains the method of choice since Magnetic Resonance (MR) is likely to cause the use of sedation and analgesia at very young ages and it may also be relatively costly despite being more sensitive in soft tissues. Mucosal stripping is an ideal method for the patients requiring restricted surgery. The antenatal asymptomatic cases can be operated after their 6th months of age.


Subject(s)
Abnormalities, Multiple/diagnosis , Digestive System Abnormalities/diagnosis , Abdominal Pain/etiology , Abnormalities, Multiple/surgery , Child , Child, Preschool , Choristoma/etiology , Digestive System Abnormalities/surgery , Female , Humans , Infant , Infant, Newborn , Male , Pancreas , Respiration Disorders/etiology , Stomach , Vomiting/etiology
9.
West Indian Med J ; 63(7): 698-702, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25867556

ABSTRACT

AIM: The monitoring of oxygenation is essential for providing patient safety and optimal results. We aimed to determine brain oxygen saturation values in healthy, asphyctic and premature newborns and to compare cerebral oximeter and pulse oximeter values in the first 72 hours of life in neonatal intensive care units. METHODS: This study was conducted at the neonatal intensive care unit (NICU) of Van Yüzüncü Yil University Research and Administration Hospital. Seventy-five neonatal infants were included in the study (28 asphyxia, 24 premature and 23 mature healthy infants for control group). All infants were studied within the first 72 hours of life. We used a Somanetics 5100C cerebral oximeter (INVOS cerebral/somatic oximeter, Troy, MI, USA). The oxygen saturation information was collected by a Nellcor N-560 pulse oximeter (Nellcor-Puriton Bennet Inc, Pleasanton, CA, USA). RESULTS: In the asphyxia group, the cerebral oximeter average was 76.85 ± 14.1, the pulse oximeter average was 91.86 ± 5.9 and the heart rate average was 139.91 ± 22.3. Among the premature group, the cerebral oximeter average was 79.08 ± 9.04, the pulse oximeter average was 92.01 ± 5.3 and the heart rate average was 135.35 ± 17.03. In the control group, the cerebral oximeter average was 77.56 ± 7.6, the pulse oximeter average was 92.82 ± 3.8 and the heart rate average was 127.04 ± 19.7. CONCLUSION: Cerebral oximeter is a promising modality in bedside monitoring in neonatal intensive care units. It is complementary to pulse oximeter. It may be used routinely in neonatal intensive care units.

10.
Clin Ter ; 164(5): 385-9, 2013.
Article in English | MEDLINE | ID: mdl-24217822

ABSTRACT

AIMS: Burn is a major health problem that cause of mortality, morbidity and psychological problems in children and adults throughout the world. The aim of this study was to evaluate the epidemiological, etiological features and outcomes of burns in the southeast region of Turkey. PATIENTS AND METHODS: A total of 3010 burn patients (age vary between 2 month to 95 years old) that admitted to the Dicle University burn center during the 15 years period (1994-2008) were reviewed. Age, gender, demographic characteristics, length of hospital stay of patients, etiology and degree of burns, cause of nosocomial infections, the total body surface area (TBSA) percentage and outcomes were analyzed. RESULTS: Of 3010 patients, 1602 (53.2%) cases were female and 1408 (46.8%) were male. The mean age was 10.51±13.45. The most of patients (58.1%, 1748 patients) were ≤ 5 years old, 19.9% (598) were 6-15, 20.1% (606) were 16-50 and 1.9% (58) were ≥51 years old. Burn type of cases were including: 1956 (65%) scalding burns, 624 (20.7%) flame burns and 430 (14.3%) electrical burns. Degree of burns were including: 22 (0.7%) first-degree, 2706 (89.9%) second-degree and 282 (9.4%) third-degree burns. The mean of length of hospitalization was 13.25 ±10.77 days. The most frequent isolated microorganisms were Pseudomonas aeruginosa (55%, 553), Acinetobacter spp. (13%, 128), and Escherichia coli (8%, 78). Mortality rate was 4.6%. CONCLUSIONS: The epidemiology of burns may vary according to lifestyles, age, living conditions and socio-economic status among different regions and hospitals. Improvement of life conditions and socio-economic status, trainings, periodic studies of nosocomial infections and increasing the number of burn centers, would contribute to reduction of deaths due to burns.


Subject(s)
Burns/epidemiology , Accidents, Home/statistics & numerical data , Acinetobacter Infections/epidemiology , Acinetobacter Infections/etiology , Adolescent , Adult , Aged , Aged, 80 and over , Anti-Bacterial Agents/therapeutic use , Burns/microbiology , Burns/pathology , Burns/therapy , Child , Child, Preschool , Combined Modality Therapy , Cross Infection/epidemiology , Cross Infection/etiology , Cross Infection/microbiology , Debridement , Escherichia coli Infections/epidemiology , Escherichia coli Infections/etiology , Female , Fluid Therapy , Humans , Infant , Length of Stay/statistics & numerical data , Male , Middle Aged , Pseudomonas Infections/epidemiology , Pseudomonas Infections/etiology , Retrospective Studies , Severity of Illness Index , Sex Distribution , Survival Rate , Treatment Outcome , Turkey/epidemiology , Wound Infection/epidemiology , Wound Infection/etiology , Wound Infection/microbiology , Young Adult
11.
Eur Rev Med Pharmacol Sci ; 17(7): 971-6, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23640446

ABSTRACT

AIM: Urinary tract infections (UTIs) are common infections affecting children. The aim of our study is to determine microorganisms that cause community-acquired urinary tract infections and their antibiotic susceptibility in children. MATERIALS AND METHODS: Our investigation includes 150 cases which has positive urine culture. The cases are detected at Pediatric Polyclinics of Dicle University between June 2010 and June 2011. RESULTS: The study included 118 (78.7%) female and 32 (21.3%) male children. Urinary tract infections were seen in autumn 10.7% (n = 16), summer 35.3% (n = 53), winter 30.7% (n = 46) and spring 23.3% (n = 35). The culture results indicated 75.3% (n = 113) Escherichia coli; 20.7% (n = 31) Klebsiella; 2.7% (n = 4) Proteus and % 1.3 (n = 2) Pseudomonas. The antibiotic resistance against Escherichia coli was found out is amikacin (3%), ertapenem (7%), imipenem (0%), meropenem (0%), nitrofurantoin (9%), trimethoprim/sulfamethoxazole (58%), piperacillin (83%), amoxicillin/clavulanate (50%), ampicillin/sulbactam (65%), cefazolin (54%), cefotaxime (51%), cefuroxime sodium (51% ) and tetracycline (68%). The resistance ratios of Klebsiella are amikacin (0%), imipenem (0%), levofloxacin (0%), meropenem (0%), amoxicillin/clavulanate (57%), ampicillin/sulbactam (79%), ceftriaxone (68%), cefuroxime sodium (74%) and trimethoprim/sulfamethoxazole (61%). CONCLUSIONS: The results represent the increasing antibiotic resistance against microorganisms among the community-acquired UTI patients in a developing country such as Turkey. So, the physicians should consider resistance status of the infectious agent and choose effective antibiotics which are nitrofurantoin and cefoxitin for their empirical antibiotic treatment. Furthermore, they should be trained about selection of more effective antibiotics and check the regional studies regularly.


Subject(s)
Community-Acquired Infections/drug therapy , Urinary Tract Infections/drug therapy , Adolescent , Child , Child, Preschool , Community-Acquired Infections/microbiology , Drug Resistance, Bacterial , Female , Humans , Infant , Male , Microbial Sensitivity Tests , Seasons , Urinary Tract Infections/microbiology
12.
Acta Chir Belg ; 112(5): 346-54, 2012.
Article in English | MEDLINE | ID: mdl-23175922

ABSTRACT

BACKGROUND: To examine the clinico-epidemiological details of paediatric caustic substance ingestion (CSI) accidents in Turkey. To present the new DROOL Score (DS), which the authors developed based on the severity and duration of initial signs and symptoms (ISSs) to predict oesophageal stricture (OS) without endoscopy, and to present our management protocol based on immediate feeding, early detection, and oesophageal balloon dilatation (OBD) of OS with no barium study. METHODS: We prospectively reviewed the records of 202 children admitted with a history of CSI within 48 hours. Patient, parent, caustic substance, and accident characteristics were noted in detail. Patients were fed as soon as they could swallow saliva. Diagnoses of OS were made earlier via timely endoscopy (mean, 10-14 days after CSI) for patients with persistent dysphagia and OBD was started earlier. ISSs and DSs were analyzed. OS treatment results were compared between early (10-14 days) and late (> or = 21 days) dilatation patients who were referred for OBD by other hospitals. RESULTS: In total, 144 (71%) incidents occurred within the parents' home and 44 (22%) occurred at another individual's home. The caustic substances were frequently sold in non-original containers (68.8%). Most patients' parents had low incomes and were poorly educated. Ninety-six children had no ISSs, whereas 106 patients had ISSs. Seventeen symptomatic patients had persistent dysphagia after 10-14 days. Timely endoscopy was performed within 10-14 days for these patients only, and OS was diagnosed and successfully treated. DSs were significantly lower in patients with OS than those without (p < 0.001). A DS < or = 4 was a significant predictor of OS (100% sensitivity, 96% specificity, 85% positive and 100% negative predictive values). Results were significantly more satisfactory in early (n = 17) than in late (n = 6) dilatation patients. CONCLUSIONS: Paediatric CSI accidents might decrease if caustic substances were sold in the original child-proof containers. OS can be highly predicted by a simple DS instead of endoscopic grading, and can be diagnosed earlier (10-14 days) via endoscopy only in patients with persistent dysphagia, instead of a late barium study (> or = 21 days). OBD can then also be started earlier in these patients.


Subject(s)
Accidents, Home , Caustics/administration & dosage , Caustics/poisoning , Accidents, Home/statistics & numerical data , Adolescent , Child , Child, Preschool , Deglutition Disorders/etiology , Eating , Endoscopy, Digestive System , Female , Humans , Infant , Male , Poisoning/diagnosis , Poisoning/therapy , Prognosis , Prospective Studies , Turkey
13.
Genet Couns ; 23(2): 249-53, 2012.
Article in English | MEDLINE | ID: mdl-22876584

ABSTRACT

BACKGROUND: The nucleolar organizer regions (NORs) are localized at the secondary constriction of the five pairs of acrocentric chromosomes (13, 14, 15, 21 and 22) in human. MATERIALS AND METHODS: To evaluate whether increasing AgNOR protein synthesis effects or not the development of babies/children, 25 Down syndrome patients were included in this study. Firstly, the Ankara Development Screening Inventory (AGTE) test was performed. Then the buccal epithelial cells of patients were taken via a sterile toothpick on clean glass slides and spreaded and AgNOR staining technique was applied to the slides of each individual. Mean NOR area/Total nucleus area (NORa/TNa) were evaluated for each nucleus using a special computer program. RESULTS: The mean NORa/TNa was found to be 3.8+/-1.16. According to these data, a significant correlation was not evident between the NORa/TNa and developmental stages (p>0.05). CONCLUSIONS: There is no correlation between extra energy spending for NOR protein synthesis and developmental deficiency.


Subject(s)
Antigens, Nuclear/genetics , Child Development , Down Syndrome/genetics , Gene Expression/genetics , Nucleolus Organizer Region/ultrastructure , Child, Preschool , Female , Humans , Infant , Male
14.
Genet Couns ; 23(4): 483-5, 2012.
Article in English | MEDLINE | ID: mdl-23431748

ABSTRACT

EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.953G > A) on exon 7 of p63 gene is presented.


Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Cleft Lip/diagnosis , Cleft Lip/genetics , Cleft Palate/diagnosis , Cleft Palate/genetics , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/genetics , Membrane Proteins/genetics , Mutation, Missense/genetics , Cleft Lip/complications , Cleft Palate/complications , DNA Mutational Analysis/methods , Ectodermal Dysplasia/complications , Exons , Female , Genetic Predisposition to Disease/genetics , Heart Septal Defects, Atrial/complications , Heart Septal Defects, Atrial/diagnosis , Heart Septal Defects, Atrial/genetics , Humans , Infant, Newborn
15.
Kulak Burun Bogaz Ihtis Derg ; 19(5): 272-6, 2009.
Article in English | MEDLINE | ID: mdl-19961408

ABSTRACT

Two cases with basal cell carcinomas on the middle of the nose were treated by using subcutaneous pedicled nasolabial island flap. There were no partial or total flap losses in either case and neither of the cases had local recurrence during the follow-up period. The subcutaneous pedicled nasolabial flap should be considered to be an alternative to the paramedian forehead flap for the reconstruction of defects on the middle of the nose. In this article two cases in whom subcutaneous pedicled nasolabial island flap method was applied for the reconstruction of middle defects of the nose are presented in the light of the literature.


Subject(s)
Carcinoma, Basal Cell/surgery , Lip/surgery , Nose Neoplasms/surgery , Nose/surgery , Plastic Surgery Procedures/adverse effects , Surgical Flaps/adverse effects , Aged , Female , Humans , Male , Reoperation , Treatment Outcome
16.
Genet Couns ; 20(3): 255-60, 2009.
Article in English | MEDLINE | ID: mdl-19852432

ABSTRACT

Rubinstein-Taybi syndrome (RTS) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is characterized by mental retardation, growth retardation, a particular dysmorphology and, in a subset of cases, immunodeficiency. RTS is typically caused by CREBBP deficiency, and heterozygous mutation or deletion of the CREBBP gene has been identified in 60-70% of patients. The inheritance is autosomal dominant but reports of vertical transmission are exceedingly rare; near-all cases are caused by de novo mutations. Here we present an 8-month-old boy with varicella meningoencephalitis, RTS, and a de novo deletion of the CREBBP gene of two base pairs at position 201-202 in exon 2, c. 201 202delT. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS.


Subject(s)
CREB-Binding Protein/genetics , Chromosome Deletion , Encephalitis, Varicella Zoster/genetics , Rubinstein-Taybi Syndrome/genetics , Base Pairing , Chromosome Mapping , DNA Mutational Analysis , E1A-Associated p300 Protein/genetics , Encephalitis, Varicella Zoster/diagnosis , Exons , Genetic Carrier Screening , Humans , In Situ Hybridization, Fluorescence , Infant , Male , Rubinstein-Taybi Syndrome/diagnosis
17.
Dermatol Online J ; 15(4): 13, 2009 Apr 15.
Article in English | MEDLINE | ID: mdl-19450406

ABSTRACT

Lymphangiectasia is a benign condition with multiple dilated lymph vessels in the dermis. Vulvar localization is rare and mostly depends on disturbing the lymphatic flow. We present a patient with vulvar lesions and ipsilateral congenital lower extremity lymphedema. Surgical excision eliminated the lymphangiectasia and improved the appearance of the edematous vulva.


Subject(s)
Lymphangiectasis/etiology , Lymphedema/complications , Vulvar Diseases/etiology , Adult , Cellulitis/complications , Female , Humans , Lymphangiectasis/physiopathology , Lymphangiectasis/surgery , Lymphedema/congenital , Lymphedema/physiopathology , Vulvar Diseases/physiopathology , Vulvar Diseases/surgery
18.
Oncogene ; 28(26): 2456-65, 2009 Jul 02.
Article in English | MEDLINE | ID: mdl-19430492

ABSTRACT

The Cul4A gene, which encodes a core component of a cullin-based E3 ubiquitin ligase complex, is overexpressed in breast and hepatocellular cancers. In breast cancers, overexpression of Cul4A strongly correlates with poor prognosis. In addition, Cul4A is required for early embryonic development. The early lethality of mouse embryos prevented a detailed analysis of the functions of Cul4A. Here, we used a strain of mice carrying floxed alleles of Cul4A to study its role in cell division, in vitro and in vivo. Embryonic fibroblasts (MEFs) show a severe deficiency in cell proliferation after deletion of Cul4A. We observed that the Cul4A protein is abundantly expressed in the brain, liver and the mammary tissue of pregnant mice. Deletion of Cul4A in the liver impairs hepatocyte proliferation during regeneration after carbon tetrachloride (CCl(4))-induced injury. The Cul4A-deleted cells are slow in entering the S phase, and are deficient in progressing through the early M phase. Several cell-cycle regulators, including p53 and p27Kip1, are deregulated in the Cul4A-deleted cells. Expression of a dominant negative mutant of p53 causes significant reversal of the proliferation defects in Cul4A-deleted cells. The Cul4A-deleted cells show an aberrant number of centrosome, multipolar spindles and micronuclei formation. Furthermore, those cells are sensitive to UV irradiation and show reduced levels of unscheduled DNA synthesis (UDS). Together, our observations indicate that Cul4A is required for efficient cell proliferation, control of centrosome amplification and genome stability.


Subject(s)
Cullin Proteins/genetics , Genomic Instability , Sequence Deletion , Animals , Carbon Tetrachloride/toxicity , Cell Division , Cell Line , Cell Proliferation , Centrosome/metabolism , Chromosomal Instability , Cyclin-Dependent Kinase Inhibitor p27/metabolism , DNA/biosynthesis , DNA Repair , Hepatocytes/pathology , Humans , Liver/drug effects , Liver/injuries , Liver/pathology , Male , Mice , S Phase , Tumor Suppressor Protein p53/antagonists & inhibitors , Tumor Suppressor Protein p53/metabolism , Ultraviolet Rays
20.
Dermatol Online J ; 14(9): 9, 2008 Sep 15.
Article in English | MEDLINE | ID: mdl-19061591

ABSTRACT

A 72-year-old man presented with an unusually severe case of rhinophyma. The pedunculated mass was widely excised and a skin graft from the medial upper arm was applied. A very satisfactory cosmetic result was obtained.


Subject(s)
Asthma/complications , Nasal Obstruction/etiology , Nose Deformities, Acquired/etiology , Rhinophyma/complications , Rhinoplasty , Skin Transplantation , Aged , Fibrosis , Humans , Hyperplasia , Male , Nose Deformities, Acquired/pathology , Nose Deformities, Acquired/psychology , Nose Deformities, Acquired/surgery , Rhinophyma/pathology , Rhinophyma/psychology , Rhinophyma/surgery , Sebaceous Glands/pathology , Social Isolation
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