Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: a case -control study.

BACKGROUND: In recent years, the identification of genetic and phenotypic biomarkers of cancer for prevention, early diagnosis and patient stratification has been a main objective of research in the field. Different multivariable models that use biomarkers have been proposed for the evaluation of individual risk of developing breast cancer. METHODS: This is a case control study based on a population-based cohort. We describe and evaluate a multivariable model that incorporates 92 Single-nucleotide polymorphisms (SNPs) (Supplementary Table S1) and five different phenotypic variables and which was employed in a Spanish population of 642 healthy women and 455 breast cancer patients. RESULTS: Our model allowed us to stratify two groups: high and low risk of developing breast cancer. The 9th decile included 1% of controls vs 9% of cases, with an odds ratio (OR) of 12.9 and a p-value of 3.43E-07. The first decile presented an inverse proportion: 1% of cases and 9% of controls, with an OR of 0.097 and a p-value of 1.86E-08. CONCLUSIONS: These results indicate the capacity of our multivariable model to stratify women according to their risk of developing breast cancer. The major limitation of our analysis is the small cohort size. However, despite the limitations, the results of our analysis provide proof of concept in a poorly studied population, and opens up the possibility of using this method in the routine screening of the Spanish population.

Traumatic abdominal wall hernia as a component of the seatbelt syndrome: A case report of complete abdominal wall muscle transection.

INTRODUCTION AND IMPORTANCE: Seat belt syndrome (SBS) is a rare condition described as injuries sustained due to thoracic, abdominal, and pelvic compression in the context of traffic accidents. These injuries can range from minor skin abrasions to large lesions of internal organs and spinal cord involvement. Traumatic abdominal wall hernias (TAWH) are one of the injuries that can be associated. CASE PRESENTATION: A 21-year-old male suffered a severe injury, resulting in complete transection of all abdominal wall musculature due to SBS, with associated visceral injury. Emergency surgery included intestinal and sigmoid colon resection, along with cava vein repair. After a prolonged recovery, a second-stage surgery for abdominal wall reconstruction was planned. Prehabilitation involved botulinum toxin and pneumoperitoneum, with surgical planning utilizing CT scan and 3D reconstruction. The second-stage surgery included transversus abdominis release and placement of double mesh. CLINICAL DISCUSSION: Managing traumatic abdominal wall hernias in polytrauma patients necessitates emergent surgery for vital injuries, while reconstructive surgery timing is crucial, with patient preparation being essential. Surgical planning, including 3D reconstructions, enhances accuracy, and safety, with repair technique selection depending on anatomical features. Given our patient's athletic background and preoperative vascular CT findings, flapless reconstructive surgery was chosen to mitigate vascular risks. CONCLUSION: The therapeutic approach to traumatic abdominal wall injuries should be individualized to each patient, with a focus on addressing vital injuries first and considering abdominal wall reconstruction surgery at a subsequent stage. Utilizing CT scan with 3D reconstruction can be a valuable tool for preoperative planning in cases involving significant abdominal wall defects.

Reduction in the anxiolytic effects of ethanol by centrally formed acetaldehyde: the role of catalase inhibitors and acetaldehyde-sequestering agents.

RATIONALE: Considerable evidence indicates that brain ethanol metabolism mediated by catalase is involved in modulating some of the behavioral and physiological effects of this drug, which suggests that the first metabolite of ethanol, acetaldehyde, may have central actions. Previous results have shown that acetaldehyde administered into the lateral ventricles produced anxiolysis in a novel open arena in rats. OBJECTIVES: The present studies investigate the effects of centrally formed acetaldehyde on ethanol-induced anxiolysis. MATERIALS AND METHODS: The effects of the catalase inhibitor sodium azide (SA; 0 or 10 mg/kg, IP) on ethanol-induced anxiolysis (0.0, 0.5, or 1.0 g/kg, IP) were evaluated in CD1 mice in two anxiety paradigms, the elevated plus maze and the dark/light box. Additional studies assessed the effect of the noncompetitive catalase inhibitor 3-amino-1,2,4-triazole (AT; 0.5 g/kg, IP) and the acetaldehyde inactivation agent D: -penicillamine (50 mg/kg, IP) on the plus maze. RESULTS: SA reduced the anxiolytic effects of ethanol on several parameters evaluated in the elevated plus maze and in the dark/light box. In the plus maze, AT completely blocked and D-penicillamine significantly reduced the anxiolytic properties of ethanol. CONCLUSIONS: Thus, when cerebral metabolism of ethanol into acetaldehyde is blocked by catalase inhibitors, or acetaldehyde is inactivated, there is a suppressive effect on the anxiolytic actions of ethanol. These data provide further support for the idea that centrally formed or administered acetaldehyde can contribute to some of the psychopharmacological actions of ethanol, including its anxiolytic properties.

Severe central nervous system toxicity after chronic treatment with cyclosporine.

Severe neurologic complications following treatment with cyclosporine are uncommon. They tend to occur during the first month of treatment and disappear after withdrawal or reduction of the dose of the drug. We report the case of a man who underwent a liver transplantation and subsequently developed severe central nervous system toxicity. After two years receiving cyclosporine, he presented with a brachial monoparesis and a complex visual disturbance. Symptoms slowly worsened during four months. On admission, he had confusion and seizures. Multiple areas of T2 prolongation, located in cerebral white matter, were seen on magnetic resonance imaging (MRI). Symptoms partially improved after cyclosporine withdrawal, but brain lesions shown on MRI persisted in serial imaging studies after two years of follow-up. We discuss the mechanisms that have been proposed to explain this clinical picture. Severe cyclosporine-associated neurotoxicity can also occur after chronic administration, even with serum levels in therapeutic range.

Extraskeletal myxoid chondrosarcoma of the infratemporal fossa: a case report.

Extraskeletal myxoid chondrosarcoma is a rare tumour affecting the head and neck. We present a new case located in the midfacial region. Clinical, pathological and therapeutical features are reviewed.

[Levodopa-induced psychosis in patients with idiopathic Parkinson disease]. / Psicosis por levodopa en pacientes con enfermedad de Parkinson idiopática.

BACKGROUND: To identify which clinical factors can modify the probability of the appearance of the psychotic syndromes in patients with idiopathic Parkinson's disease treated with levodopa. PATIENTS AND METHODS: 214 patients were retrospectively studied to evaluate the appearance of hallucinosis, delusions or mental confusion, from the beginning of the treatment with levodopa to a transversal evaluation along the course of the disease. To determine which clinical factors were independent predictors of psychosis, a multivariate logistic regression model was obtained, using the variables for which the univariate studies showed p values under 0.25. RESULTS: The multivariate model showed that the probability of developing psychosis during levodopa treatment was higher for the patients with intermediate or advanced stages of the disease (Hoehn and Yarh scale), at the beginning of the treatment (OR: 4.5; 95% CI: 1.86-11.23), when amantadine was administrated as associated drug (OR: 3.31; 95% CI: 1.19-9.23) and for the patients who presented motor fluctuations (OR: 3.08; 95% CI: 1.32-7.16). Univariate studies showed a significant association between levodopa psychosis and dyskinesias (univariate OR: 2.44; 95% CI: 1.12-5.33). Patients who suffered from psychotic complications had received significantly higher mean levodopa daily dose (p = 0.016) and the punctuation reached in the Folstein's Mini-Mental Scale was significantly lower (p = 0.0001). CONCLUSIONS: Levodopa psychosis appears in a "bad prognostic" group of patients, characterized by a greater motor and cognitive impairment and by the occurrence of other levodopa central adverse effects, higher doses of levodopa and a more frequent administration of other antiparkinsonian drugs.

[Motor complications of treatment with levodopa in Parkinson's disease]. / Complicaciones motoras del tratamiento con levodopa en la enfermedad de Parkinson.

INTRODUCTION: Motor complications of treatment with levodopa affect more than 50% of patients after several years' treatment. This has a marked effect on patients with Parkinson's disease since these side effects are undesirable, affect the natural course of the disorder and complicate treatment. DEVELOPMENT: In this review we describe the main epidemiological, physiopathological and therapeutic aspects of the motor complications of levodopa. According to most epidemiological studies, starting treatment at an early age and more severe degree of the disorder are the main risk factors. The physiopathology of motor complications is varied. It has been thought to be due to loss of the buffer effect of the brain on plasma levels of levodopa, alterations in the functional state of the postsynaptic receptors and chronic intermittent use of levodopa. Management includes division and/or reduction of the dose of levodopa, use of slow-release preparations and association of dopaminergic agonists with COMT inhibitors which are the latest drugs to be tried. Various surgical possibilities in specialist centres may also be considered for serious cases of motor complications which do not respond to medical treatment. CONCLUSIONS: Recent advances in understanding the physiopathology and in the medical and surgical treatment permit improved control of the motor complications of chronic treatment with levodopa.

[Spontaneous dissection of the internal carotid artery. A report of two cases]. / Disección espontánea de la arteria carótida interna. Presentación de dos casos.

INTRODUCTION: Dissection of the internal carotid artery is a condition with a broad clinical spectrum. In absence of the classical triad of cervical pain, oculosympathetic ipsilateral paralysis and ischemic cerebral symptoms a considerable index of clinical suspicion is necessary to make a diagnosis. It is therefore considered to be probably underdiagnosed. The development of new techniques for neurovascular investigation, particularly ultrasound and magnetic angioresonance have improved the possibilities of diagnosis. CLINICAL CASES: In this paper we describe two cases of dissection of the internal carotid artery representing different clinical findings in the same condition. One patient presented with unilateral paralysis of the XI, X and XII cranial nerves and the other with transient ischemic cerebral accidents. In both cases the provisional diagnosis was made in function of the duplex findings of the supra-aortic trunks and confirmed by magnetic angioresonance studies. Both patients made satisfactory progress with complete recanalization of the vessels and no recurrence of symptoms after several months of follow-up. CONCLUSION: We discuss the different clinical characteristics and findings of the neurovascular examinations.

[Meningeal carcinomatosis as first manifestation of carcinoma of the bladder: report of 2 cases]. / Carcinomatosis meníngea como primera manifestación del carcinoma de vejiga: a propósito de dos casos.

Meningeal carcinomatosis may occur in 0.8-8% of patients with solid tumors. The most common tumors associated with that condition are breast and small cell lung cancer. Meningeal carcinomatosis from urothelial cancer is rare, and it appears described in advanced stages of disease, generally, after chemotherapy. Two cases of meningeal carcinomatosis as the first manifestation of bladder cancer were reported. In the first case, a 46-year-old man presented signs and symptoms indicative of involvement of the spinal roots, subsequently neurologic dysfunction of the brain and cranial nerves appeared. In the second case, a 68-year-old man was admitted to our hospital with a history compatible with panhypopituitarism and pulmonary lymphangitic carcinomatosis from cancer of unknown primary site. Follow-up revealed a transitional cell carcinoma of the bladder and hydrocephalus due to cerebrospinal fluid outflow obstruction. We emphasize in the polymorphic presentation of meningeal carcinomatosis and the necessity to consider the bladder as primary tumor localization.

[Palatal myoclonus associated with myotonic dystrophy type 1]. / Mioclonia palatina asociada a distrofia miotonica de tipo 1.

TITLE: Mioclonia palatina asociada a distrofia miotonica de tipo 1.

[Neuroleptic malignant syndrome associated with the inadequate antidiuretic hormone secretion syndrome]. / Síndrome neuroléptico maligno asociado a síndrome de inadecuada secreción de hormona antidiurética.

Neuroleptic malignant syndrome (NMS) is an adverse reaction of an idiosyncratic nature to drugs having antidopaminergic activity. Pathogenesis is largely disputed. An NMS case is presented which was triggered by flupentixol and was associated with severe hyponatremia (116 mmol/l upon admission). Both clinically and analytically, the hyponatraemia fulfills criteria to be considered secondary to an inappropriate secretion of antidiuretic hormone (SIADH). Other possible causes of hyponatraemia were ruled out. After early treatment with dopaminergic agonists and water restriction, both conditions improved in parallel. The different pathogenetic possibilities which may explain the temporal coexistence of both syndromes in the same patient are discussed. The association of these two conditions is in favour of a probable central pathogenetic cause for NMS. On the other hand, it is suggested that hyponatraemia may mask the diagnosis of NMS.

[Symptomatic Chiari type-II malformation in the neonatal period: a review of 4 cases]. / Malformación de Chiari tipo II sintomática en periodo neonatal: revisión de cuatro casos.

Four newborn patients with symptomatic Chiari II malformations were studied retrospectively. Clinical manifestations and surgical results are presented. All of these patients had hydrocephalus, which was symptomatic in two patients from the first day of life. Three of them had bradycardia and apnea spells. Two patients had lower cranial nerve palsies. Cranial sonography was the first neuroimaging procedure used and it played an important role during the follow-up period, especially for the study of the hydrocephalus. Two newborns could be studied with Magnetic Resonance Imaging (MRI). It defined the level of the decent of the fossa posterior structures and the associated malformations. All of the patients were treated with surgical repair of the spinal dysraphism, ventricular shunt and decompressive surgery. Two patients died before the age of three months. Two other patients showed better evolution after their two year and four year check-ups, respectively. Bradycardia and apnea spells are features that worsen the prognosis as compared with other manifestations.

[Cerebellar medulloblastoma in childhood: supratentorial metastasis]. / Meduloblastoma cerebeloso en la infancia: metástasis supratentoriales.

Reports on supratentorial metastases of medulloblastoma are infrequent. Computed tomography has increased the possibilities of detecting then in a silent clinical phase. Five children with supratentorial metastasis of medulloblastoma were retrospectively reviewed. Diagnosis was established by cranial CT between three and sixty months following treatment of the tumor. Dissemination through the ventricular system was found in all the cases. Other lesions were found in the transition zone between the white and grey matter (2/5) and the left frontal lobe (1/5). The routes of dissemination are discussed. Early diagnosis of supratentorial metastasis of medulloblastoma require periodic cranial CT or magnetic resonance imaging (MRI), at least during the first years after diagnosis and treatment of the primary tumor.