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1.
Radiography (Lond) ; 28(3): 711-717, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35490049

RESUMO

INTRODUCTION: Apparent diffusion coefficient (ADC) values are effective in the diagnosis of different gynecological lesions. METHODS: A retrospective evaluation was made of 12 patients with uterine cervix carcinoma and 151 patients with uterine lesions, comprising endometrial cancer, endometrial polyps, carcinosarcoma, submucous myoma, adenomyosis, endometrial hyperplasia, gestational trophoblastic neoplasm (GTN), and leiomyomas. As a control group, 20 healthy volunteers with normal endometrium and normal cervix were also evaluated. In three series, one-shot, spin echo, echo planar, b = 1000 s/mm2 value and diffusion-weighted imaging (DWI) were applied to all subjects and ADC values were obtained. RESULTS: The mean ADC values of Group 1 (Endometrial carcinoma) were lower than those of all the other groups (P < 0.001) and the mean ADC value of group 6 (GTN) was higher than that all other groups (P < 0.001). A statistically significant difference was found between the groups in terms of the lesion-myometrium ADC ratios (P < 0.001). CONCLUSION: There are few studies in literature related to ADC measurements in GTN. The ADC values of GTN were found to be significantly higher than the other uterine lesions. These results will aid in the design of future studies and might be used to guide management of patients with GTN. IMPLICATIONS FOR PRACTICE: Diffusion-weighted MRI seems to be a promising imaging technique in differentiating different uterine lesions.


Assuntos
Neoplasias do Endométrio , Leiomioma , Imagem de Difusão por Ressonância Magnética/métodos , Neoplasias do Endométrio/diagnóstico , Neoplasias do Endométrio/patologia , Feminino , Humanos , Leiomioma/diagnóstico , Prognóstico , Estudos Retrospectivos
2.
Langenbecks Arch Surg ; 406(3): 571-585, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33880642

RESUMO

BACKGROUND AND AIMS: The purpose of this review is to provide updated recommendations for the surgical management of primary (pHPT) and renal (rHPT) hyperparathyroidism, formulating a new guideline of the German Association of Endocrine Surgeons (CAEK). METHODS: Evidence-based recommendations for the diagnosis and therapy of pHPT and rHPT were assessed by a multidisciplinary panel using PubMed for a comprehensive literature search together with a structured consensus dialogue (S2k guideline of the Association of the German Scientific Medical Societies, AWMF). RESULTS: During the last 20 years, a variety of new preoperative localization procedures, such as sestamibi-SPECT, 4D-CT, and various PET/CT procedures, were established for pHPT. High-resolution imaging, together with intraoperative parathyroid hormone (IOPTH) measurement, enabled focused or minimally invasive surgery to become the most favored surgical technique. Patients with pHPT and nonlocalizing imaging have a higher risk of multiglandular disease. Surgical therapy provides very high cure rates, with a clear relation to the surgeon's experience in parathyroid procedures. Reoperative parathyroidectomy, children with pHPT or familial forms, and parathyroid carcinoma are addressed and require special surgical expertise. A multidisciplinary team of experienced nephrologists, transplant, and endocrine surgeons should assess the diagnosis and treatment of renal HPT. CONCLUSION: Surgery is the only curative treatment for pHPT and should be considered for all patients with pHPT. For rHPT, a more selective approach is required, and parathyroidectomy is indicated only when conservative treatment options fail. In parathyroid carcinoma, the adequacy of local resection influences local disease control.


Assuntos
Hiperparatireoidismo Primário , Cirurgiões , Criança , Humanos , Hiperparatireoidismo Primário/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos , Glândulas Paratireoides , Hormônio Paratireóideo , Paratireoidectomia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada
3.
Chirurg ; 92(5): 448-463, 2021 May.
Artigo em Alemão | MEDLINE | ID: mdl-32945919

RESUMO

BACKGROUND: Since 2015 operations performed in the field of endocrine surgery have been entered into the European registry EUROCRINE®. The aim of this analysis was a description of the current healthcare situation for adrenal surgery in a homogeneous healthcare environment corresponding to the German-speaking countries-or to the presence of the working group on surgical endocrinology (CAEK) of the German society for general and visceral surgery (DGAV)-and to assess the adherence to current international treatment guidelines. METHODS: An analysis of the preoperative diagnostics, the applied operative techniques and the underlying histological entities was carried out for all operations on adrenal glands in Germany, Switzerland and Austria, which were registered in EUROCRINE® from 2015 to 2019. RESULTS: In the total of 21 participating hospitals from the German-speaking EUROCRINE® countries, 658 operations on adrenal glands were performed. In 90% of cases unilateral adrenalectomy was performed, in 3% bilateral adrenalectomy and in 7% other resection procedures. In 41% the main histological diagnosis was an adrenocortical adenoma. In 15% malignant entities were detected on final histology, including 6% adrenocortical carcinoma (ACC) and 8% metastases to the adrenal glands. 23% of the operations were performed for pheochromocytoma. This entity was primarily resected using minimally invasive approaches (82%), whereas minimally invasive techniques were applied in 28% for ACC and in 66% for metastases to the adrenal glands. CONCLUSION: Surprisingly, following adrenocortical adenoma and pheochromocytoma, the third most common histological entity was metastasis of different extra-adrenal primary tumors to the adrenal gland. Of the operations for ACC 28% were scheduled for minimally invasive techniques, but conversion to open surgery was necessary in 20%. The analysis revealed discrepancies between treatment reality and international guideline recommendations that raise questions, which will be addressed by an updated version of the EUROCRINE® module for the documentation of adrenal surgery.


Assuntos
Neoplasias do Córtex Suprarrenal , Neoplasias das Glândulas Suprarrenais , Laparoscopia , Neoplasias do Córtex Suprarrenal/cirurgia , Neoplasias das Glândulas Suprarrenais/cirurgia , Adrenalectomia , Áustria , Alemanha , Humanos , Suíça
4.
J Endocrinol Invest ; 43(5): 615-622, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31989449

RESUMO

BACKGROUND: Various approaches for endoscopic and minimally invasive thyroid operations have been reported, with some becoming popular to date. The aim of these procedures is to reduce and prevent visible scars in the neck. This led to the transoral endoscopic thyroidectomy vestibular approach (TOETVA) technique applicable in small thyroid specimen. To amend TOETVA and to broaden the indication for transoral thyroid surgery, our aim was to combine the TOETVA with the retroauricular endoscopic cephalic access thyroid surgery (EndoCATS) facelift approach. METHODS: After successful implementation of the TOETVA technique in 2017, we evaluated the transoral technique regarding feasibility and safety in well-selected patients in Germany and Austria. With the combination of TOETVA and EndoCATS, we were able to optimize the extraction process of the specimen by avoiding damage to the thyroid capsule and to broaden the indication of transoral surgery by operating on thyroid glands with higher volume. Patients' characteristics, surgical outcome and complications were determined. RESULTS: Seventy-one transoral procedures were performed in 70 patients. The TOETVA procedure was performed in 60 patients, and 10 female patients underwent TOVARA with transoral thyroid lobe mobilization and removal of the specimen via the retroauricular access. Overall, median operation time was 205 min (range 96-370 min) and permanent RLNP rate was 1% accordant to 99 nerves at risk (39 hemithyroidectomies, 29 total thyroidectomies, 2 parathyroid resections, and 1 thyroglossal cyst resection). No conversion to conventional open surgery was necessary. Long-term mental nerve injury occurred in two patients. No infection was identified. CONCLUSIONS: Transoral thyroid and parathyroid surgery via the vestibular approach is both feasible and safe in Western Europe. The combination of the TOETVA with the retroauricular endoscopic cephalic access thyroid surgery (EndoCATS) facelift approach, called TOVARA, is a promising opportunity to allow for thyroid surgery without a visible scar in specimen with volume of more than 40 ml also.


Assuntos
Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Doenças da Glândula Tireoide/cirurgia , Glândula Tireoide/cirurgia , Tireoidectomia/métodos , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Doenças da Glândula Tireoide/patologia , Glândula Tireoide/patologia , Adulto Jovem
5.
Chirurg ; 89(7): 537-544, 2018 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-29637242

RESUMO

BACKGROUND: More than 10 years ago various research groups in Germany first reported the possibility of transoral surgery of the thyroid and parathyroid glands. These were developed and evaluated within the framework of natural orifice transluminal endoscopic surgery (NOTES). While development of these innovative and new techniques that enabled surgery without visible scars did not become well accepted in Europe and America, it led to an optimized transoral endoscopic thyroidectomy vestibular approach (TOETVA), which was implemented particularly in Asia. We report the preparation, step-by-step implementation, and first promising results for TOETVA of an international surgical cooperation. MATERIAL AND METHODS: A Thai-Austrian-German cooperation was started in June 2017. Between June and November 2017 the first 10 TOETVA procedures were performed in female and male patient(s) presenting with single thyroid nodules, sporadic primary hyperparathyroidism and solitary parathyroid adenoma or thyroglossal duct cysts. The TOETVA technique was performed using 3 laparoscopic ports inserted at the oral vestibule and a CO2 insufflation pressure at 6-8 mm Hg. Each surgery was performed using laparoscopic instruments and ultrasonic or bipolar devices. Surgical outcome, complications and conversions to an open technique were recorded. RESULTS: Of the patients six presented with single thyroid nodules, two patients had multinodular goitre with scintigraphically cold nodules and multifocal hyperfunctioning thyroid tissue, one patient suffered from sporadic primary hyperparathyroidism with a left sided parathyroid adenoma and one patient suffered from a thyroglossal duct cyst. No conversion to conventional open surgery was necessary. Average tumor size was 3.1 cm (range 1-4 cm). There was no relevant loss of blood or subsequent bleeding. No temporary or permanent hoarseness or mental nerve injury occurred, while transient hypoparathyroidism was evident after successful parathyroid resection. Of the patients five developed a slight postoperative hematoma in the submandibular region. No infections or disorders of wound healing occurred. CONCLUSION: The TOETVA technique is feasible and safe in selected patients; however, further prospective studies are necessary to evaluate the value of the procedure, risks and long-term results.


Assuntos
Glândulas Paratireoides , Tireoidectomia , Feminino , Humanos , Masculino , Glândulas Paratireoides/cirurgia , Estudos Prospectivos
6.
JBR-BTR ; 98(3): 105-106, 2015 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-30394423

RESUMO

BACKGROUND: A 44-year-old-woman was admitted to our hospital with a 7-day history of abdominal pain. The pain was non-continuous, generalized and colicky in nature. Physical examination showed diffuse abdominal tenderness. The results of the serum biochemistry tests were within normal limits. Plain film of the abdomen showed a few air-fluid levels.

7.
Clin Ter ; 165(4): 207-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25203335

RESUMO

Chondroid syringoma (CS) is a rarely seen benign tumor rooted in the epithelial and mesenchymal cells of the skin. It is generally localized in the head and neck region and rarely in the extremities. A case is presented here of a giant CS in the rarely seen location of the elbow. A 55-year old male presented at our hospital with the complaint of a slow-growing painless mass in the left elbow. On the left elbow radiograph, mass opacity was observed with a regular border surrounded by a fine radiolucent line within the subcutaneous tissue adjacent to the humerus in the posterior of the elbow. On the contrast elbow MRI mass was observed lobular contours, a regular border and isointensity to muscle in the subcutaneous fat plans. Hypointense linear images were observed in the mass. The lesions demonstrate evident enhancement. An excisional biopsy was performed. A diagnosis of benign CS was made histopathologically. Especially in the differential diagnosis of slow growing cutaneous and subcutaneous nodules in the extremities, CS should feature when fibrous septa are seen on MRI.


Assuntos
Adenoma Pleomorfo/diagnóstico por imagem , Cotovelo/diagnóstico por imagem , Neoplasias das Glândulas Sudoríparas/diagnóstico por imagem , Idoso , Biópsia , Diagnóstico Diferencial , Cotovelo/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino
8.
Folia Morphol (Warsz) ; 73(2): 159-63, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24902094

RESUMO

BACKGROUND: The aim of this study was to evaluate the frequency of left renal vein (LRV) and inferior vena cava (IVC) variations and the effect of gender on this frequency, as well as the presence of associated abdominal pathologies. MATERIALS AND METHODS: Multi-slice computed tomography (MSCT) images from 746 patients were evaluated retrospectively. RESULTS: Left renal vein variations were identified in 9.8% of cases, while retroaortic LRV (RLRV) and circumaortic LRV (CLRV) were found in 7.4% and 2.4% of cases, respectively. No significant correlation was found between gender and LRV variations (p = 0.797). Of the cases with LRV and IVC variations, 73% had abdominal pathologies, the most common of which were nephrolithiasis, which appeared in 18 (32%) cases, and renal cysts, which appeared in 14 (25.4%) cases. CONCLUSIONS: MSCT is a rapid and reliable method of identifying LRV and IVC variations and associated abdominal pathologies.

9.
Clin Ter ; 165(2): e134-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24770821

RESUMO

PURPOSE: Intracranial lipomas are rare congenital malformations. The most common location of intracranial lipoma is the midline cerebral structures. The most frequently seen symptoms are headaches, seizures, psychomotor retardation and cranial nerve deficits. This study aimed to evaluate the clinical and radiological findings of 14 patients with intracranial lipoma. MATERIALS AND METHODS: The study comprised 14 patients diagnosed with intracranial lipoma from computed tomography and magnetic resonance imaging taken after presentation at our hospital with headaches or seizures between January 2008 and April 2012. The cranial CT and MR images were evaluated by two experienced specialist radiologists. The lipoma localisation, size, morphology, any concomitant anomalies and findings of compression were recorded. RESULTS: The study comprised 14 patients diagnosed with intracranial lipoma. The lipoma was observed to be located pericallosal, adjacent to the mamillary body and the optic chiasm, interhemispheric, in the quadrigeminal cistern and sylvian fissure. 3 patients had a history of seizures. The others had headaches. CONCLUSIONS: If there are no concomitant central nervous system (CNS) anomalies, there are no significant clinical or neurological findings apart from headaches.


Assuntos
Neoplasias Encefálicas/diagnóstico , Lipoma/diagnóstico , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/congênito , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Lipoma/congênito , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
11.
Chirurg ; 85(3): 186-91, 2014 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-24526142

RESUMO

Cancer of the upper gastrointestinal tract is one of the leading causes for cancer related deaths worldwide. While the incidence of esophageal carcinoma is increasing, the incidence of gastric cancer has been continuously decreasing over the past decades. Most patients are often diagnosed with advanced stage disease and the prognosis is still dismal. For many patients surgery is the central part of the therapy; however, improvements in the diagnostic work-up, staging techniques and therapy concepts have led to a more individualized therapeutic approach. Endoscopic treatment of early cancer is well established with high cure rates. In advanced gastric cancer the implementation of multimodal therapies, standardized surgical techniques and optimized perioperative management has led to an improvement in prognosis and outcome. The limitations of surgery in esophagogastric cancer are defined by current scientific results, recent technical developments and patient-specific characteristics. These limitations are continuously changing and require an ongoing review.


Assuntos
Neoplasias Esofágicas/terapia , Neoplasias Gástricas/terapia , Adenocarcinoma/mortalidade , Adenocarcinoma/patologia , Adenocarcinoma/terapia , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/terapia , Terapia Combinada , Progressão da Doença , Intervalo Livre de Doença , Endoscopia/métodos , Neoplasias Esofágicas/mortalidade , Neoplasias Esofágicas/patologia , Esofagectomia/métodos , Gastrectomia/métodos , Humanos , Excisão de Linfonodo/métodos , Metástase Linfática/patologia , Terapia Neoadjuvante , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Prognóstico , Neoplasias Gástricas/mortalidade , Neoplasias Gástricas/patologia
12.
Eur J Endocrinol ; 170(2): 201-9, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24174287

RESUMO

OBJECTIVE: Serum calcium (Ca(2)(+)) and parathyroid hormone (PTH), amongst others, modify cortical excitability. Alterations in cortical excitability were shown in patients with epilepsy as well as hyper- or hypoparathyroidism. In patients with primary hyperparathyroidism (pHPT), preoperative elevated serum calcium and parathyroidectomy (PTx) may affect mood and quality of life. We hypothesized that perioperative changes in Ca(2)(+) and PTH in pHPT will affect cortical excitability and improve subjective health. DESIGN AND METHODS: Transcranial magnetic stimulation (TMS) was performed before and after surgery in 15 pHPT patients. We measured resting motor threshold, cortical silent period (CSP), short intracortical inhibition, and intracortical facilitation. Health questionnaires were administered before, 1 day and 6 months after PTx, along with the disease-specific Pasieka's parathyroid assessment of symptoms (PAS), which was, to our knowledge, its first use in German. RESULTS: SURGERY WAS SUCCESSFUL IN ALL PATIENTS. TMS-MEASUREMENTS REMAINED UNCHANGED WHEN ANALYZING ALL PATIENTS IN THIS PILOT STUDY. POSTOPERATIVELY, DEPRESSION DECLINED (P=0.05) AND QUALITY OF LIFE IMPROVED SIGNIFICANTLY (P=0.001) IN THE SF-36-SUBSCALES: vitality, social functioning, mental health and subjective health transition (post-hoc analysis). The PAS proved early relief of disease-specific symptoms (P<0.001). CONCLUSIONS: We found unchanged cortical excitability comparing pre- and post-PTx in this pilot study. Mood and quality of life improved postoperatively. The German PAS is valuable in detecting disease-specific changes early after PTx.


Assuntos
Cálcio/sangue , Córtex Cerebral/fisiologia , Hiperparatireoidismo Primário/psicologia , Hormônio Paratireóideo/sangue , Adulto , Afeto , Idoso , Cálcio/fisiologia , Depressão/psicologia , Depressão/cirurgia , Feminino , Humanos , Hiperparatireoidismo Primário/cirurgia , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Período Pós-Operatório , Qualidade de Vida , Estimulação Magnética Transcraniana
13.
Indian J Med Microbiol ; 31(4): 412-4, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24064655

RESUMO

Primary intramuscular hydatid cyst should be considered for the differential diagnosis of cystic soft tissue masses especially in the endemic areas though primary muscular hydatidosis is a rare clinical entity. We aimed to report the case of a 30-year-old female patient with infected primary intramuscular hydatid cyst located in the sartorius muscle.


Assuntos
Equinococose/diagnóstico , Equinococose/patologia , Músculos/patologia , Adulto , Feminino , Humanos , Músculos/parasitologia
14.
Clin Ter ; 164(3): e179-82, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23868634

RESUMO

PURPOSE: The study was planned based on the hypothesis that cerebral metabolism is impaired in chronic obstructive pulmonary disease (COPD) by using localized in vivo proton magnetic resonance spectroscopy. MATERIALS AND METHODS: The study comprised 30 male patients, aged 45-70 years, with moderate level COPD and an aged matched group of 30 healthy males as the control group. Cerebral metabolism was investigated with proton magnetic resonance spectroscopy (MRS) using multivoxel technique. Data normal distribution conformity was evaluated by the One Sample Kolmogorov Smirnov Test and homogeneity by the One-Way ANOVA test. For both the COPD and control group, data were obtained as mean, standard deviations, minimum and maximum values. Independent sample t-test was used for the comparison of means between the two groups. RESULTS: The frontal and parietal white matter in patients with COPD showed an overall reduction in cerebral metabolites. The NAA (N-acetylaspartate)/Cr (Creatinine), Cho (Choline)/Cr ratios of the cerebral frontal and parietal white matter regions in the COPD group were significantly lower than the control group. CONCLUSIONS: The findings of this study through the use of MRS confirmed that most patients with symptomatic COPD have cerebral metabolic abnormalities.


Assuntos
Encéfalo/metabolismo , Espectroscopia de Ressonância Magnética , Doença Pulmonar Obstrutiva Crônica/metabolismo , Idoso , Humanos , Masculino , Pessoa de Meia-Idade
16.
Clin Ter ; 164(6): e489-91, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24424228

RESUMO

Hydatid cyst is formed from parasitic infestation by Echinococcus granulosus, and may involve several bodily organs, primarily the liver and lungs. In endemic regions, hydatid cyst should be borne in mind in cases of retroperitoneal cystic masses. Diagnosis of hydatid cyst is made from radiological findings and serological test positivity. Hydatid cyst diagnosis can be made from typical radiological imaging findings. This paper presents the imaging findings of a 56-year old male with retroperitoneal hydatid cyst.


Assuntos
Equinococose/diagnóstico por imagem , Animais , Echinococcus granulosus , Humanos , Fígado , Masculino , Pessoa de Meia-Idade , Espaço Retroperitoneal
17.
Clin Neuroradiol ; 23(1): 25-30, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22886232

RESUMO

PURPOSE: This study aimed to evaluate the contribution of diffusion weighted magnetic resonance imaging to the diagnosis and staging of subacute sclerosing panencephalitis. MATERIAL AND METHOD: The study comprised 26 patients diagnosed with subacute sclerosing panencephalitis at our clinic who were undergoing regular follow-up, and a control group of 18 subjects. Clinical staging was determined by Risk and Haddad classification; 12 at Stage II and 14 at Stage III. Diffusion weighted magnetic resonance images were taken of six areas (frontal, parieto-occipital, cerebellar, deep white matter, thalamus and basal ganglia) and by calculating the apparent diffusion coefficient (ADC) values, and a comparison was made between the stages and with the control group. RESULTS: The ADC values of all the areas of the subacute sclerosing panencephalitis patients were found to be significantly higher compared to the control group (p < 0.05). While the mean ADC values of the deep white matter, basal ganglia, frontal and parieto-occipital areas of the Stage II patients were found to be significant compared to the control group (p < 0.05), there was no significance in the other areas (p > 0.05). The ADC values of all the areas of the Stage III patients were found to be significantly high compared to the Stage II values (p < 0.05). CONCLUSION: Diffusion weighted magnetic resonance imaging can be used with other diagnostic criteria to confirm diagnosis of subacute sclerosing panencephalitis and to reveal differences between the stages.


Assuntos
Algoritmos , Interpretação de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Panencefalite Esclerosante Subaguda/patologia , Adolescente , Criança , Feminino , Humanos , Aumento da Imagem/métodos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
19.
J Int Med Res ; 39(2): 594-602, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21672364

RESUMO

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, inflammatory neurodegenerative disease. This study investigated the relationships of clinical stage with epidemiological and magnetic resonance imaging (MRI) findings in SSPE by retrospective review of 76 cases (57 male) diagnosed by typical periodic electroencephalographic features, clinical symptoms and elevated measles antibody titre in cerebrospinal fluid. Clinical stage at diagnosis was I or II in 48 patients, III in 25 and IV in three. Prominent findings at presentation were atonic/myoclonic seizures (57.9%) and mental deterioration with behaviour alteration (30.3%). Frequent MRI findings (13 - 32 patients) were subcortical, periventricular and cortical involvement and brain atrophy; the corpus callosum, basal ganglia, cerebellum and brainstem were less frequently involved. Five patients had pseudotumour cerebri. Cranial MRI at initial diagnosis was normal in 21 patients (19 stage I/II, two stage III/IV). Abnormal MRI findings were significantly more frequent in the later stages, thus a normal initial cranial MRI does not exclude SSPE, which should, therefore, be kept in mind in childhood demyelinating diseases even when the presentation is unusual.


Assuntos
Imageamento por Ressonância Magnética , Panencefalite Esclerosante Subaguda/diagnóstico , Panencefalite Esclerosante Subaguda/epidemiologia , Criança , Feminino , Humanos , Masculino , Turquia/epidemiologia
20.
Exp Clin Endocrinol Diabetes ; 119(1): 26-9, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20625975

RESUMO

OBJECTIVE: A relationship between primary hyperparathyroidism (pHPT) and pancreatitis has long been debated and remains a rare epiphenomenon. In a cohort of patients with pHPT and pancreatitis mutations in the serine protease inhibitor Kazal type I (SPINK1) and cystic fibrosis transmembrane conductance regulator (CFTR) genes, that increase the risk for pancreatitis have already been detected. Among the identification of additional pancreatitis-associtated mutations in the Chymotrypsin C gene (CTRC) it became clear that also protective genetic variants exist in the anionic trypsinogen gene (PRSS2) that decrease susceptibility for pancreatitis. Our aim was to detect either protective or inducing genetic factors in a large cohort of pHPT patients. METHODS: Among 1,259 patients with pHPT, 57 patients were identified with pancreatitis (4.5%). DNA was available from 31 patients (16 acute pancreatitis/15 chronic pancreatitis). These individuals and 100 patients with pHPT without pancreatitis were analysed for CTRC (p.R254W and p.K247_R254del) and PRSS2 (p.G191R) mutations using melting curve analysis and DNA sequencing or PCR and gel electrophoresis (in case of p.K247_R254del CTRC). RESULTS: 2 of 31 patients with pHPT and pancreatitis carried the CTRC p.R254W missense mutation (6.5%), while all 100 pHPT controls without pancreatitis showed no CTRC mutation (P=0.055). No further SPINK1 p.N34S (n=4) mutations were detected but the probability of either CTRC or SPINK1 mutations in pHPT patients with pancreatitis is high (P<0.05). 1 patient was trans-heterozygous ( SPINK1: N34S/ CTRC p.R254W). CTRC p.K247_R254del was not detected in both groups. PRSS2 (p.G191R) mutation was present in 1 patient with pancreatitis (3.2%) and in 6 pHPT controls (6%) (P=1). CONCLUSION: This study underlines the relevance of a genetic background in pHPT related pancreatitis. However, it only indicates that the CTRC (p.R254W) mutation might also contribute to the panel of mutations ( SPINK1 and CFTR) that have been formerly reported to elevate pancreatitis susceptibility in pHPT. Besides it suggests that protective genetic variants, i. e., p.G191R PRSS2, may contribute to the low prevalence of pancreatitis in pHPT patients.


Assuntos
Quimotripsina/genética , Hiperparatireoidismo Primário/genética , Pancreatite/genética , Tripsina/genética , Tripsinogênio/genética , Idoso , Análise Mutacional de DNA , Bases de Dados Factuais , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Hiperparatireoidismo Primário/complicações , Masculino , Pessoa de Meia-Idade , Pancreatite/etiologia , Reação em Cadeia da Polimerase
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