Enfoque práctico en el diagnóstico de los errores congénitos del metabolismo / Practical approach to the diagnosis of inherited metabolic diseases

Resumen Los errores congénitos del metabolismo constituyen un grupo creciente de enfermedades poco frecuentes con habitual impacto neurológico. Heterogéneas en el aspecto clínico y bioquímico, su diagnóstico y terapéutica son dificultosos. Los avances en su conocimiento, en los métodos diagnósticos y en sus tratamientos, ponen de relevancia lo importante de un diagnóstico oportuno, puerta del acceso a la inter vención médica temprana. Es muy relevante la sospecha del neuropediatra ante diferentes situaciones clínicas. El presente artículo pretende ser un aporte práctico para facilitar su reconocimiento.

Abstract Inborn errors of metabolism constitute a growing group of rare diseases with usual neurological impact. Hete-rogeneous in clinical and biochemical aspects, its diagnosis and treatment are difficult. Advances in its knowledge, in diagnostic methods and in its treatments, highlight the importance of a timely diagnosis, the gateway to access to early medical intervention. The neuropediatrician's suspicion in different clini cal situations is very relevant. This article aims to be a practical contribution to facilitate their recognition.

Algoritmo de Emergencias Médicas de Chiapas para pacientes en estado de choque / Medical emergencies of Chiapas algorithm for patients in shock disease / Algoritmo de Emergências Médicas de Chiapas para pacientes em estado de choque

Resumen El abordaje sobre la mejor estrategia para diagnosticar y manejar pacientes en estado de choque (EC) de forma rápida y eficiente es dinámico, depende de las características propias del paciente, de la tecnología disponible y la evidencia científica siempre en evolución; todo esto lleva a que exista considerable variación en la práctica diaria. El objetivo de esta propuesta es dar a conocer un algoritmo basado en criterios clínicos, optimizando las herramientas disponibles y logrando un proceso diagnóstico sencillo y rápido con el principal objetivo de ser útil para el manejo del paciente.

Abstract The approach on the best strategy to diagnose and manage patients in shock disease (CD) quickly and efficiently is dynamic, it depends on the characteristics of the patient, the available technology, the scientific evidence always in evolution; All of this leads to considerable variation in daily practice. The objective of this proposal is to present an algorithm based on clinical criteria and optimizing the available tools, achieving a simple, fast diagnostic process with the main objective of being useful to the patient.

Resumo A abordagem sobre a melhor estratégia para diagnosticar e manejar pacientes em choque (PC) de forma rápida e eficiente é dinâmica, depende das características do paciente, da tecnologia disponível, das evidências científicas sempre em evolução; tudo isso leva a uma variação considerável na prática diária. O objetivo desta proposta é apresentar um algoritmo baseado em critérios clínicos e otimizando as ferramentas disponíveis, alcançando um processo diagnóstico simples e rápido com o objetivo principal de ser útil para o manejo do paciente.

A Study on Different Diagnostic Approach for Early Recognition of Canine Pyometra

The study aimed to evaluate ultrasonographic findings, radiography, and blood profile in 24 bitches presented for treatment of pyometra. Clinical symptoms such as anorexia, vaginal discharge, depression, polyuria/polydipsia, vomiting, and abdominal distension were seen. Among these various types of diagnostic approaches, ultrasonography a powerful tool for the early detection of uterine abnormalities. Before any clinical alterations could be noticed, ultrasonography allowed the diagnosis of pathologic abnormalities. Pyometra must be identified, diagnosed, and treated as soon as possible to achieve a successful outcome

Diagnostic Approach to a Soft Tissue Mass / 대한정형외과학회잡지

Soft tissue masses of the extremities and torso are a common problem encountered by orthopaedic surgeons. Although these soft tissue masses are often benign, orthopaedic surgeons need to recognize the key features differentiating benign and malignant masses. An understanding of the epidemiology and clinical presentation of soft tissue masses is needed to develop a practical approach for evaluation and surgical management. Size and depth are the two most important factors on which triage decisions should be based. In a differential diagnosis of a tumor, it is important to know the characteristics of the soft tissue mass through detailed history taking and physical examinations before the diagnostic procedures. A variety of imaging studies, such as simple radiography, ultrasound, magnetic resonance imaging, positron emission tomography, computed tomography, bone scan, and angiography can be used to diagnose tumors. Know the ledge of advantages and disadvantages of each imaging study is essential for confirming the characteristics of the tumor that can be observed in the image. In particular, ultrasonography is convenient because it can be performed easily in an outpatient clinic and its cost is lower than other image studies. On the other hand, the accuracy of the test is affected by the skill of the examiner. A biopsy should be performed to confirm the tumor and be performed after all imaging studies have been done but before the final treatment of soft tissue tumors. When a biopsy is to be performed, careful attention to detail with respect to multidisciplinary coordination beforehand, cautious execution of the procedure to minimize complications, and expedient follow-up and referral to a musculoskeletal oncologist when appropriate, are essential.

Clinical approach to patients with dizziness

Although dizziness is common, it is one of the most challenging symptoms in clinical medicine. Defining the type of dizziness has been considered the first step when approaching patients with dizziness. This approach was based on the belief that each type of dizziness reflects a specific underlying mechanism. A more recent approach involves grouping patients into 4 major categories: 1) acute prolonged spontaneous dizziness, 2) recurrent spontaneous dizziness, 3) recurrent positional dizziness, and 4) chronic persistent dizziness and imbalance. Vestibular neuritis and strokes are the most common causes of acute prolonged spontaneous dizziness, and neuro-otologic examination findings play a key role in the differential diagnosis. Careful history-taking is extremely important in diagnosing the disorders that cause recurrent spontaneous dizziness since the findings of the clinical examination and laboratory evaluations are often negative without a confirmatory diagnostic tool. Benign paroxysmal positional vertigo is a predominant cause of recurrent positional vertigo and can easily be treated with canalith-repositioning maneuvers. Chronic persistent dizziness and imbalance occur in various degenerative or psychiatric disorders that frequently require a referral to a specialist. This new approach may be more practical for managing patients with dizziness.

Carcinoma nasofaríngeo: conducta del médico internista ante un caso de adenopatía cervical con sospecha de malignidad / Nasopharyngeal carcinoma: behavior of internist facing a case of cervical lymphadenopathy with suspected malignancy

Resumen El carcinoma nasofaríngeo es un tumor de células escamosas que comúnmente aparece alrededor del ostium de la trompa de Eustaquio en la pared lateral de la nasofaringe. En términos generales, es una causa rara de cáncer en el mundo, aunque llega a ser muy frecuente en países del sureste de Asia y en Alaska. En México, el carcinoma nasofaríngeo no figura entre las 20 principales causas de cáncer. Esta neoplasia se ha relacionado con el virus Epstein-Barr, pero en su aparición también intervienen factores genéticos, raciales, ambientales y dietéticos. Los síntomas iniciales son inespecíficos, por lo que el paciente y el médico de primer contacto los pasan por alto. La manifestación sintomática más común es la linfadenopatía cervical, que puede ser bilateral y voluminosa incluso en 50% de los afectados. Se comunica el caso de un paciente de 70 años de edad con diagnóstico de carcinoma nasofaríngeo, que acudió al servicio de medicina interna por adenopatía cervical bilateral, y cuyo diagnóstico final requirió un enfoque multidisciplinario.

Abstract Nasopharyngeal carcinoma (NPC) is a squamous cell tumor that usually develops around the lateral wall of the nasopharynx near the Eustachian tube ostium. Overall it is a rare cause of cancer worldwide, although it has a high frequency in some endemic regions of Southeast Asia and Alaska. In Mexico, nasopharyngeal carcinoma is not listed among the 20 leading causes of cancer in the country. The etiology of NPC has been linked mainly to Epstein-Barr virus (EBV), but also involves genetic, racial, environmental and dietary risk factors. The clinical presentation is non-specific and this can be misleading to the primary care physician. The most common symptomatic presentation is cervical lymphadenopathy, which can be bilateral and voluminous up to 50% of patients. This paper reports the case of a 70 year-old man diagnosed with NPC, who was admitted in the internal medicine ward because of bilateral cervical lymphadenopathy, and a multidisciplinary approach was required to establish the final diagnosis.

Diarreia aguda / Acute diarrhea

Diarreia aguda é a passagem de quantidade acima do normal de fezes amolecidas associada ao aumento do número de evacuações. No diagnóstico diferencial das diarreias agudas devem ser enfocados as infecções, as alergias alimentares, a intoxicação alimentar, o uso de medicações e a apresentação inicial de diarreia crônica. Dentre estas possíveis etiologias, especialmente em nosso meio, as causas infecciosas devem sempre vir à mente e constituir uma das primeiras opções na investigação diagnóstica. As infecções intestinais associadas a quadros diarreicos são a segunda causa de mortes de origem infecciosa em todo o mundo, com prevalência estimada de 3 a 5 bilhões de casos/ano. Os autores atualizam as novidades e peculiaridades a respeito do diagnóstico e dos tratamentos — geral e/ou específico — dos diferentes agentes associados à diarreia aguda infecciosa.

Acute diarrhea is the passage of above normal quantities of soft faeces also associated with increased bowel movements. Differential diagnosis of acute diarrhea should be focused on infections, food allergies, food poisoning, use of medications and the initial presentation of chronic diarrhea. Among these possible etiologies, given the environment we live in, infectious causes should always be taken into account and be one of the first options in diagnostic investigation. Intestinal infections associated with diarrheal frames are the second leading cause of infectious deaths worldwide, with an estimated to 3-5 billion cases/per year. In this review, the authors intend to review the new features and aspects concerning diagnosis and treatment — general and/or specific — of the different agents associated with acute infectious diarrhea.

Diarreia aguda / Acute diarrhea

Diarreia aguda é a passagem de quantidade acima do normal de fezes amolecidas associada ao aumento do número de evacuações. No diagnóstico diferencial das diarreias agudas devem ser enfocados as infecções, as alergias alimentares, a intoxicação alimentar, o uso de medicações e a apresentação inicial de diarreia crônica. Dentre estas possíveis etiologias, especialmente em nosso meio, as causas infecciosas devem sempre vir à mente e constituir uma das primeiras opções na investigação diagnóstica. As infecções intestinais associadas a quadros diarreicos são a segunda causa de mortes de origem infecciosa em todo o mundo, com prevalência estimada de 3 a 5 bilhões de casos/ano. Os autores atualizam as novidades e peculiaridades a respeito do diagnóstico e dos tratamentos - geral e/ou específico - dos diferentes agentes associados à diarreia aguda infecciosa

Acute diarrhea is the passage of above normal quantities of soft faeces also associated with increased bowel movements. Differential diagnosis of acute diarrhea should be focused on infections, food allergies, food poisoning, use of medications and the initial presentation of chronic diarrhea. Among these possible etiologies, given the environment we live in, infectious causes should always be taken into account and be one of the first options in dignostic investigation. Intestinal infections associated with diarrheal frames are the second leading cause of infectious deaths worldwide, with an estimated to 3-5 billion cases/per year. In this review, the authors inted to review the new features and aspects concerning diagnosis and treatment - general and/or specific - of the different agents associated with acute infectious diarrhea

Neutropenia in children / 소아과

Neutropenia is defined as an absolute neutrophil count (ANC) of <1,500/microliter, and the severity of neutropenia generally can be graded as mild (1,000-1,500/microliter), moderate (500-1,000/microliter), or severe (<500/microliter). This stratification aids in predicting the risk of pyogenic infection because the susceptibility to life-threatening infections is significantly increased in patients with prolonged episodes of severe neutropenia. Especially cancer-related neutropenia carry significant mortality. Neutropenia can develop under various conditions such as decreased bone marrow production, the sequestering of neutrophils, and increased destruction of neutrophils in the peripheral blood. Neutropenia is classified according to the etiology as congenital or acquired, with the latter further defined according to the etiology or pathology. The clinical result is increased risk for infection, which is directly proportional to the severity and duration of the neutropenia. The typical workup of neutropenia starts with a 6-week period in which complete blood counts are measured twice weekly to document the persistence of the neutropenia and whether a cyclic pattern is present. When persistent neutropenia is diagnosed and no spontaneous recovery occurs within 3 months, a more extensive evaluation is advised. Treatment is usually unnecessary for most patients with severe neutropenia, as the majority of patients have a good prognosis. However, for patients who have severe and frequent infections, treatment with filgrastim may prevent infectious complications and improve quality of life.

Diagnostic Approaches to the Patient with Dizziness

Dizziness is one of the most commonly presenting complaints in clinical practice. However, a systematic diagnostic approach to the dizzy patient remains challenging due to the wide range of diagnostic possibilities. As a symptom, dizziness is quite subjective and is resulted from diverse conditions. Therefore, classifying the patient's complaints into the etiology oriented categories through detailed histories should be the first step of the approach. Physicians should be acquainted with skills for the history taking and a brief but comprehensive neuro-otologic examination which can be done easily in clinical practice. This article focused on practical skills for history taking and bedside examination in the diagnostic approaches to the patient with dizziness.

Excessive Daytime Sleepiness

Excessive daytime sleepiness (EDS) is a prevalent complaint among patients in psychiatric and medical care. Patients with EDS have often been misdiagnosed with depression due to their complaints of lack of energy and poor concentration. Also, they have even been diagnosed erroneously with a psychotic disorder in case of coexistence with hypnagogic hallucination. EDS can seriously affect the person's quality of life by causing decreased academic achievement or work performance, low self esteem, and social withdrawal. EDS is also frequently associated with various medical and psychiatric conditions, and often fatal traffic or on-the-job accidents. The causes of EDS range from insufficient sleep to central nervous system-originated hypersomnia. The conditions that can lead to EDS include circadian rhythm disorders, primary disorders of alertness such as narcolepsy, sleep-related breathing disorders such as obstructive sleep apnea syndrome, sleep-related movement disorders such as periodic limb movement disorder and restless legs syndrome, chronic medical conditions such as cancer, and medications causing sleepiness. Treatment options should be tailored according to the underlying condition and include sufficient sleep time, light therapy, sleep scheduling, wakefulness-promoting medications, or mechanical airway managements such as nasal continuous positive airway pressure (CPAP).

Clinical features, diagnosis and treatment of acute primary headaches at an emergency center: why are we still neglecting the evidence?

In order to analyze the clinical features, approach and treatment of patients with acute primary headaches seen at the Clinics Hospital of the Federal University of Uberlândia (HC-UFU) throughout 2005, the medical charts of 109 patients were evaluated through a standardized questionnaire as to age, gender, main diagnosis, characteristics of the headache attacks, diagnostic tests and treatment. Probable migraine was the most common type of primary headache (47.7 percent), followed by probable tension-type headache (37.6 percent), unspecified headache (11.9 percent), and headache not elsewhere classified (2.8 percent). As to characteristics of the crisis, the location of the pain was described in 86.2 percent of the patients. The most commonly used drugs for treatment of acute headache attacks were dipyrone (74.5 percent), tenoxicam (31.8 percent), diazepam (20.9 percent), dimenhydrate (10.9 percent), and metochlopramide (9.9 percent). The data collected are in agreement with those reported in literature. In most cases, treatment was not what is recommended by consensus or clinical studies with appropriate methodology. Therefore, we suggest the introduction of a specific acute headache management protocol which could facilitate the diagnosis, treatment and management of these patients.

Com o objetivo de avaliar as características clínicas, abordagem e tratamento das cefaléias agudas primárias atendidas no Hospital de Clínicas da Universidade Federal de Uberlândia (HC-UFU) no ano de 2005, 109 prontuários foram analisados através de questionário padronizado, segundo idade, sexo, diagnóstico principal, características das crises, propedêutica e tratamento. A distribuição dos pacientes quanto ao tipo de cefaléia foi a seguinte: provável enxaqueca 47,7 por cento, provável cefaléia tensional 37,6 por cento, cefaléia não classificada 11,9 por cento e cefaléia não classificada em outro local 2,8 por cento. No que tange às características da crise, a localização da dor foi descrita em 86,2 por cento dos pacientes. No tratamento dos pacientes com crise aguda de cefaléia, as drogas mais utilizadas foram: dipirona (74,5 por cento), seguido de tenoxicam (31,8 por cento), diazepam (20,9 por cento), dramin® (10,9 por cento) e metoclopramida (9,9 por cento). Os dados levantados são condizentes com os relatados na literatura. O tratamento efetuado, na maioria dos casos, não foi o recomendado por consensos ou estudos clínicos com metodologia aceitável. Recomendamos, portanto, a introdução de um protocolo específico para o atendimento das cefaléias agudas, o que facilitará o diagnóstico, tratamento e manejo destes pacientes.

Feasibility of Clinical and Laboratory Diagnostic Approach to Chronic Female Diffuse Alopecia in Dermatologic Outpatient Clinic / 대한피부과학회지

BACKGROUND: Various kinds of disease can cause chronic diffuse hair loss in females such as female pattern hair loss and chronic telogen effluvium etc, but differential diagnosis between these diseases are so sophisticated that an easy and feasible diagnostic approach to chronic female diffuse alopecia has not yet been established. OBJECTIVE: The purpose of this study is to differentiate chronic female diffuse alopecia through several clinical and laboratory methods, which, can be tried easily in a short time with little doctor and assistants input in the ordinary dermatologic outpatient clinic. METHODS: We examined 187 female patients with a chief complaint of chronic diffuse hair loss and/or decreased hair density for more than 6 months. History taking, detailed patient's questionnaire, physical examination including hair pull test and hormonal test or skin biopsy were performed. RESULTS: Common age of onset was 20~29 years (62 cases, 33.1%) and below 19 years old (41 cases, 21.9%). A family history of similar alopecia including female pattern hair loss was seen in 50% (91 cases) and the father was the most common relative (61 cases). Crash diet restriction for weight reduction was the most common aggravating factor (14 cases, 16.1%) of hair loss and seborrheic dermatitis was the most common associated disease (24 cases, 12.8%). The serum ferritin level was lower than normal in 61 cases (40.7%) and serum copper and zinc were decreased in 22 cases (14.7%) respectively. The result of presumptive diagnosis by our checklists were as follows: female pattern hair loss (149 cases, 83.2%), diffuse alopecia areata (13 cases, 7.3%), chronic telogen effluvium (6 cases, 3.4%), and polycystic ovarian syndrome (3 cases, 1.7%). CONCLUSION: Female pattern hair loss might be the most common disease in chronic diffuse alopecia in females and a decrease of the serum ferritin level was most frequently observed. Further study about diagnostic methods such as transverse section of skin biopsy and phototrichogram will be needed for a more accurate final diagnosis.

Multidisciplinary Diagnostic Approach and Etiologic Evaluation of Patients with Developmental Disorders / 대한소아신경학회지

PURPOSE: The prevalence of developmental delay is 5-10% of the total pediatric population and early diagnosis and proper intervention are essential but a challenge for clinicians. We performed this study for several purposes. First is to know the distribution & characteristics of developmental disorders in Korea. Second is to identify all possible causes of these disorders through a multidisciplinary diagnostic approach, and thus to find out the clinical variables that are helpful in finding the etiology. And finally to develop a useful protocol that eliminates the cost of unnecessary tests and raises the diagnostic rate of the cause. METHODS: 518 patients(M 349, F 169) were studied who visited Ilsan Hospital Developmental Disorder Clinic(DDC) for the evaluation of developmental delay from April 2001 to Jan 2005. RESULTS: The mean age was 51.5+/-32.9 months, ranging from 2 months to 16.0 years of age with a majority of the preschool children(<6 yr)(79.3%). Phenomenological diagnosis consisted of 133 cases of mental retardation, 122 cases of autistic disorders, 101 cases of delayed language disorders, 27 cases of cerebral palsies, and 91 cases labeled as simple developmental delay requiring follow up due to age less than 2 years of age. Etiologic diagnosis was obtained in 119 cases(22.9%) out the 518 cases of developmental delays. 37 cases of chromosomal anomalies, 23 cases of Periventricular leukomalacia and hypoxic ischemic encephalopathy, 21 cases of syndromes, 7 cases of malformation of cortical development, 4 cases of myopathies, 4 cases of neuropathies, and 4 cases of cerebral infarctions were found. Among the clinical variables, low birth weight, facial dysmorphism, hypotonia, focal neurologic signs, and abnormalities in MRI, chromosome, EEG and EMG studies contributed to the yields of etiologic diagnosis significantly. CONCLUSION: Possible etiology was determined in about 23% of the subjects. The most important part of the assessment for the identification of etiology is thorough history taking, physical and neurologic examination. Neuroimaging study is useful in case of micro or macrocephaly, focal neurologic signs. Genetic studies increasingly produce a yield, when there is family history of inherited disorder and there are dysmorphic features. Routine metabolic screening test has limited utility. Development of a useful screening protocol adequate for Korean situation is required.