Introduction. We performed this study to quantify the acute effect of one single application of intravaginal electrostimulation in patients with symptoms of the overactive bladder syndrome (OAB), using urodynamic parameters. Materials and methods. Prospectively forty female patients were consecutively selected by entry in two groups: urodynamics only and urodynamics combined ...

The neurological polymorphism of Pure Cerebellar Syndromes (not including the heredodegenerative patterns) led the Authors to try to verify the possible correlations between neurological damages and urodynamic findings. MATERIAL AND METHODS. From 2001 to 2006 thirty patients affected by PCS were studied. They underwent several neurological and urological investigations, including ...

Fluorescent in situ hybridisation (FISH) is a complementary cytogenetic method which has an important role in discovering unsolved cases of mental retardation and multiple anomalies. The ability of this method to detect complex and cryptic chromosomal rearrangements exceeds the resolution of the usual cytogenetic banding techniques; therefore it has a ...

Patients with LQT syndrome are prone to lifethreatening arrhythmias. After surviving such an event, implantation of an ICD is indicated. There are, however, special subtle demands in the treatment of these patients. In this case report we describe our findings in a patient with LQT1 syndrome, and the pitfalls that ...

To investigate DNA repair mechanisms defective in Bloom's syndrome (BS), Cockayne syndrome (CS) and xeroderma pigmentosum (XP) patients, including variant form (XPV), the mechanisms in fibroblasts from BS in siblings, three CS patients and five XP patients were compared with thos

Pediatric opsoclonus-myoclonus syndrome (OMS) is a rare disease, including eye movement disturbances, muscle jerks, ataxia and developmental disturbances as the main symptoms. In 50% of patients, OMS is associated with a neuroblastoma as a paraneoplastic neurological syndrome. Since autoantibodies have been detected in some patients and OMS patients respond to ...

v, 77 leaves. Advisor: Michael E. Myszewski

The complex and often variable clinical presentations of patients with hereditary neoplasia syndromes mandates a multidisciplinary approach to management. The involvement of surgeons in the assessment and management of these patients is essential, in that the majority of patients affected with hereditary neoplasms will, at some point, require resection of ...

BACKGROUND: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velocardiofacial (VCFS) syndromes. The deletion of chromosome 22q11 has also been demonstrated in sporadic or familial cases of TOF. The aim of the present study was to investigate the frequency of del22q11 in ...

We report on two unrelated Brazilian patients both presenting a very unusual association of ano/microphthalmia, cystic orbital anomaly, atypical clefting, and facial appendages in one patient. Clinical manifestations presented by these patients represent a MCA/MR syndrome of unknown etiology. Considerations about syndromic delineation, genetic aspects, and differential diagnosis are discussed.

We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and ...

BACKGROUND: Approximately 50% of patients with Fisher's syndrome show involvement of the pupillomotor fibers and present with mydriasis and light-near dissociation. However, it is uncertain whether this phenomenon is induced by an aberrant reinnervation mechanism as in tonic pupil, or is based on other mechanisms such as those associated with ...

OBJECTIVE: Macrophage activation syndrome is characterized by an overwhelming inflammatory reaction driven by excessive expansion of T cells and hemophagocytic macrophages. Levels of soluble interleukin-2 receptor alpha (sIL-2Ralpha) and soluble CD163 (sCD163) may reflect the degree of activation and expansion of T cells and macrophages, respectively. This study was undertaken ...

We identified an A*0114 allele in an Irish patient with an apparent A*0236, A*3601 type.

Chromosome 22q11.2 deletion (CH22qD) syndrome is also known as DiGeorge syndrome or velocardiofacial syndrome. This deletion syndrome is extremely common with nearly one in 4000 children being affected. Recent advances and a holistic approach to patients have improved the care and well-being of these patients. This review will summarize advances ...

Syndrome X is defined as anginal chest pain accompanied by objective signs of ischemia on exercise testing but with angiographically normal coronary arteries. The aetiology of this syndrome is still not known. The AIM of this study was to evaluate changes in circadian rhythm of gastric myoelectric activity (MA) and ...

BACKGROUND: Graham Little - Piccardi - Lassueur (GLPL) syndrome is a rare dermatosis characterized by scarring alopecia, loss of pubic and axillary hair, and progressive development of variously located follicular papules. We report a first case ever of an autoimmune response in a patient suffering from GLPL syndrome. METHODS: Immunofluorescence ...

Enzyme replacement therapy (ERT) with laronidase, recombinant alpha-L-iduronidase, for mucopolysaccharidosis type I (MPS I) has been clinically available since April 2003. Pre-approval studies were performed on patients with the more attenuated forms of MPS I, Hurler-Scheie and Scheie syndromes. The clinical efficacy of laronidase on the severe form of MPS ...

Herein we present the largest retrospective case-control series of deep sedation in patients with Rett syndrome, including discussion of the unique aspects of Rett syndrome that make these patients at high risk for sedation. Twenty-one patients with Rett syndrome and 21 control patients who received propofol for deep sedation to ...

OBJECTIVE: Down syndrome patients are at increased risk for developing pulmonary hypertension (PHTN). Nitric oxide (NO) is an important factor for pulmonary vasoreactivity. Various endothelial nitric oxide synthase (eNOS) polymorphisms have been shown to affect NO. The goal of this study was to determine whether there was a difference in ...

Treatment of trigeminal trophic syndrome is challenging and often unsatisfactory, particularly in patients with cognitive impairment. We report the novel use of a thermoplastic dressing in two patients with trigeminal trophic syndrome. Use of the dressing resulted in successful healing of ulceration in both patients, which has been maintained in ...

OBJECTIVES: We investigated whether mutation of mitochondrial DNA (mtDNA) affects the copy number of the mitochondrial genome in patients with mitochondrial myopathy encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and those with myoclonic epilepsy with ragged-red fiber (MERRF) syndromes. MATERIALS AND METHODS: Forty-eight Taiwanese patients with MELAS syndrome and ...

OBJECTIVE: To describe psychosocial morbidity in a cohort of young males with hypogonadism due to Klinefelter syndrome, to document the effect of androgen replacement on behaviour, to underline issues confronting clinicians involved in treatment of this condition and to demonstrate a need for a structured program for prospective intervention for ...

Myelodysplastic syndrome (MDS) is a heterogeneous bone marrow disorder primarily affecting older adults, for whom the only curative therapy, bone marrow transplantation, is rarely an option. New therapies, or novel applications of historical therapies, are desperately needed. Arsenic trioxide (ATO), which acts through proapoptotic, antiproliferative, and antiangiogenesis mechanisms, has been ...

We present the case of a patient with Klinefelter syndrome and priapism after testosterone administration. The patient underwent testicular sperm extraction for interventional fertilization, but no sperm were found. Because he had given up trying to father a child and his testosterone level had been low, testosterone replacement therapy was ...

The neuromuscular syndrome of acute limb and respiratory weakness that commonly accompanies patients with multi-organ failure and sepsis constitutes critical illness polyneuropathy. It is a major cause of difficulty in weaning off the patient from the ventilator after respiratory and cardiac causes have been excluded. It is usually an axonal ...

Thesis (M.A.)--National Taiwan University Graduate Institute of Microbiology

BACKGROUND/PURPOSE: Mirizzi syndrome is a rare complication of gallstone disease (GSD). The association of Mirizzi syndrome and gallbladder carcinoma (GBC) is not well understood. We report our experience of gallbladder carcinoma in patients with Mirizzi syndrome. METHODS: We performed a retrospective analysis of the records of patients with Mirizzi syndrome ...

The efficacy of thrombolysis in clinical stroke subtypes is unclear. We compared the benefit of intravenous rt-PA in 11 patients with lacunar syndrome with that in 33 patients with a non-lacunar syndrome. Patients were matched by NIHSS score and time to treatment. Although no statistically significant differences were detected in ...

Primary hyperparathyroidism is characterized by hypercalcemia with loss of bone mass. After parathyroidectomy, hypocalcemia may develop in some patients due to unregulated bone mineralization. Preoperative administration of bisphosphonates, potent inhibitors of osteoclast activity, may prevent postoperative hypocalcemia after parathyroidectomy. We retrospectively reviewed medical records to investigate the effect of bisphosphonate ...

The results of vestibular investigations in a patient with confirmed lateral medullary syndrome are presented. This patient showed a unilateral weakness on caloric testing which has not been reported previously in a patient with lateral medullary syndrome. The case for the possibility of a 'central' canal paresis on caloric testing ...

We present three patients with SURF1 mutations. In addition to Leigh syndrome all patients had hypertrichosis, a clinical sign that is not usually associated with Leigh syndrome. The hypertrichosis was not congenital and it was mainly distributed on the extremities and forehead. In addition to our three patients, we have ...

Balanced chromosomal translocations rarely occur in myelodysplastic syndromes (MDS). We describe here in three further Chinese patients with myelodysplastic syndromes (MDS) whose cytogenetic analysis showed t(1;3)(p36;q21). We detected the expression pattern of MEL1 and MEL1s in BM of two healthy subjects and the three patients, and found that the expression ...

BACKGROUND: Schnitzler's syndrome is an inflammatory disorder characterised by chronic urticarial rash and monoclonal gammopathy, accompanied by periodic fever, arthralgia or arthritis, and bone pain. The cause and treatment are still unknown. OBJECTIVE: To assess treatment with thalidomide and an interleukin 1 receptor antagonist, anakinra, in Schnitzler's syndrome. CASE REPORTS: ...

Pusher syndrome is an interesting disorder of balance in patients with encephalic lesions characterized by the peculiar behavior of actively pushing away from the non-hemiparetic side and resisting against passive correction, with a tendency to fall toward the paralyzed side. The role of vestibular system on the pushing behavior is ...

OBJECTIVES: To present the evaluation and management of cryptorchidism and varicocele in patients with Klinefelter syndrome and review the literature. Recent advances in reproductive medicine have resulted in fertility in patients with Klinefelter syndrome. However, cryptorchidism and varicocele can affect the fertility potential on their own. METHODS: We present 2 ...

Three Alzheimer's disease patients with Pisa syndrome were presented. These patients were treated with cholinesterase inhibitors within a post-marketing surveillance study. The clinical and pharmacological histories of these patients suggest a relation between cholinesterase inhibitors and the pleurothotonus. The diffuse use of cholinesterase inhibitors in the treatment of dementia may ...

<B>ABSTRACT</B> Myasthenia gravis (MG) together with Lambert-Eaton myasthenic syndrome (LEMS) in the same patient is rarely described. This is a case report of a patient who initially presented with myasthenia gravis and later complicated with presumably auto-immune LEMS. The patient was noted to be HIV positive. The interest lies in ...

BACKGROUND: In Down syndrome patients several metabolic abnormalities have been reported, some involving the lipid metabolism. The level of LDL in plasma is the major determinant of the risk of vascular disease. There appear to be no studies on the LDL receptor in Down syndrome patients. METHODS: Flow cytometric methods ...

The lysosomal storage disorder (LSD) mucopolysaccharidosis type I (MPS I, McKusick 25280, Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome) is caused by a deficiency in the lysosomal enzyme, alpha-L-iduronidase (EC 3.2.1.76). MPS I patients can present within a diverse clinical spectrum, ranging from classical Hurler syndrome to attenuated Scheie syndrome. Laronidase ...

The administration of magnesium sulphate is a proposed novel therapy for Irukandji syndrome'. In this non-randomized, unblinded case series, data from ten patients who received magnesium salts are reviewed. Magnesium sulphate boluses of 10 to 20 mmol, in the six patients for which there was adequate data, reduced pain scores ...

We describe a patient with Bernard-Soulier syndrome who underwent emergency laparotomy for intraabdominal bleeding. Presentation of this recent case highlights some of the anesthetic and perioperative implications of the disease. Briefly, perioperative and anesthetic management of patients with Bernard-Soulier syndrome should include platelet transfusions and choice of appropriate anesthetic drugs ...

Bosentan, an endothelin-1 antagonist that can be administered orally, has been shown to be effective in the treatment of idiopathic pulmonary arterial hypertension and may be of benefit to patients with the Eisenmenger syndrome. Nine patients with Eisenmenger's syndrome were treated with bosentan at a dose of 125 mg twice ...

Of the patients with epidermal nevi, 10-18% may have disorders of the eye, nervous, and musculoskeletal systems. A predisposition to malignant neoplasms in ectodermal and mesodermal structures may also be found. There are six different epidermal nevus syndromes described so far: Proteus, congenital hemidysplasia with ichthyosiform nevus and limb defect ...

Patellofemoral syndrome (PFS) is one of the most common causes of knee pain in active patients and stems from problems with the kneecap (patella) as it moves over the front of the knee. PFS causes pain in the front of one or both knees, especially after either exercising or sitting ...

Between 1992 and 2002, 46 patients who underwent standard superficial parotidectomy with a superficial muscoloaponeurotic system (SMAS) preservation technique were included in a retrospective study. Twenty-six patients were evaluated by questionnaire for subjective symptoms of gustatory sweating and flushing as well as satisfaction with the aesthetic appearance of their cheek. ...

Although radiological findings of cerebral hemiatrophy (Dyke-Davidoff-Masson Syndrome) are well known, there is no systematic study about the gender and the affected side in this syndrome. Brain images in 26 patients (mean aged 11) with cerebral hemiatrophy were retrospectively reviewed. Nineteen patients (73.5%) were male and seven patients (26.5%) were ...

We have noted a number of patients with features of fibular hemimelia with radiographically normal fibulae. This study was undertaken to further define this group. A review of hospital records and radiographs over a 72-year period identified 149 limbs in 123 patients with features of fibular hemimelia syndrome. Sixteen limbs ...

Klinefelter's syndrome is one of the most common forms of primary hypogonadism and infertility in males. It is characterized by small and firm testes, gynecomastia, azoospermia, and an elevated gonadotropin level. The frequencies of diabetes mellitus, breast cancer, and germ cell neoplasia increases in Klinefelter's syndrome. We report upon a ...

Hyponatremia is a frequent occurrence after pituitary surgery, having been described in 9% to 35% of the patients. It is produced by the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) or, more frequently, by the cerebral salt-wasting syndrome (CSWS). The clinical presentation of both syndromes is identical and the ...