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BACKGROUND AND OBJECTIVE: Multidisciplinary management of Duchenne Muscular Dystrophy (DMD) has achieved outstanding results in developed nations. We aimed to describe the status of diagnosis and management of DMD in a developing country through the experience of non-profit organizations. METHODS: A Multistate, multiple-source, population-based survey was performed from medical records of 432 patients. Data were retrospectively collected, reviewed and curated by health specialists; including clinical features, age at first symptoms, age at diagnosis, disease progression and management, family history, education, age and cause of death. RESULTS: There is a delay in noticing first symptoms and it did not diminish over the past 20 years. Less than 30% of patients obtained definite diagnosis and most of them are in physiotherapy programs but not under steroid treatment. In our study, family history does not anticipate recognition of symptoms compared to sporadic cases (p = 0.05). Approximately 93.33% of our patients attended to education programs. Mean age at death was 18.94 +/- 6.73 years and the most frequent cause was pneumonia. CONCLUSION: Delayed diagnosis of DMD in Mexico is mainly caused by the late detection of first symptoms. There is no difference in early detection of symptoms between familiar and sporadic cases. Lifespan of patients in our cohort is reduced compared to developed countries. The late diagnosis and low percentage of definite cases may affect patient management and genetic counseling and could also preclude participation of patients into novel clinical trials.

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In this report we present the analysis of a sporadic case of DMD and his family. In the present case, a deletion of exons 18-47 is presented which predicts abolition of the reading frame and is located between the well-known deletion hot spots of the DMD gene. This mutation was not previously reported in the Leiden database (LOVD). Both MLPA and segregation analysis with short tandem repeat markers elucidated the status of the mother, sister and the younger brother of the proband, who were not carriers of the mutation. This case provides a description of a new pathogenic variant presented as de novo mutation in a DMD patient. Haplotype analysis and complete gene screening may improve genetic counseling in cases of germline mosaicism and de novo mutations.

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INTRODUCTION: The conventional electromyography contribute to differentiation of myopatic and neuropatic patterns in neuromuscular disorders, however, the classical patterns related to myopatic changes can result in neurogenic components, this confusion could be due to denervation and reinervation changes involved at the different stages of those diseases. OBJECTIVE: Demonstrate the importance of quantitative electromyographic techniques, as the interference pattern analysis (IPA), for a better differentiation of muscular dystrophies. PATIENTS AND METHODS: IPA was done in 95 patients with 3 different muscular dystrophies: 52 Duchenne muscular dystrophy (DMD), 33 limb girdle muscular dystrophy (LGMD) and 10 myotonic muscular dystrophy (MD) individuals and in a control group of 25 individuals. The left braquial biceps and right anterior tibial muscles were evaluated; the variables analyzed were turns/seconds (t/s), amplitude/turns (a/t), ratio turns/amplitude mean and root squared mean (RSM). RESULTS: We found statistical significant differences in all variables in both braquial biceps and right anterior tibial muscles (p < 0.05) in DMD patients. In LGMD we only found differences in a/t in braquial biceps. In MD the differences were observed in a/t, ratio and RSM in braquial biceps, and in a/t (in anterior tibial). CONCLUSIONS: All the DMD patients show differences in IPA values in relation to control group, MD only in biceps, However there were not important changes in LGMD probably because the diversity and lack of homogeneity in affected muscles in this group.

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We analyzed prenatal history of 277 live low birth weight infants (less than 2,500 g). We tried to determine some perinatal factors that may be associated with good prognosis in this group of babies. The variables analyzed were: maternal age, number of prenatal visits, complication of pregnancy, mode of delivery, birth weight, sex, gestational age. Apgar score at 1 minute and the neonatal morbidity. The population was divided in 3 groups: 1. Less than 1,000 g, (3).2. 1,000-1,499 g, (37) and 3. 1,500-2,499 g (237). Each group was also divided in appropriate for gestational age (AGA) and small for gestational age (SGA). We found that morbidity and the risk of death, is less in the SGA compared with AGA, associated with better prenatal care, higher birth weight and gestational age.

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The results of a double blind study to evaluate the efficiency of prophylactic endovenous indomethacin versus placebo for prevention of intraventricular hemorrhage (IVH) in newborn infants between 28 to 36 weeks of age who were intubated at the delivery room and required mechanical ventilation in NICU are presented. Fourty six patients required mechanical ventilation, but 14 neonates had IVH evaluated by ultrasound when were admitted to the Unit. At least 32 infants were studied, 16 for each group. There were no differences between the groups in weight, gestational age, sex and delivery way. The mobility was the same in relation to hialine membrane disease, sepsis, pneumonie and pneumotorax. The placebo group had more frequency of PDA and mortality (P < 0.5). There were no differences in mean airway pressure and arterial gases, also in glucose, platelets and urinary volume. The indomethacin group had mayor urinary density and FeNa but the results were always in normal ranges. The IVH was the same in both groups. We concluded that the indomethacin at the levels used did not produced alterations, and if the IVH is not prevented, were observed lesser severity of the same and the frequency of PDA and mortality are lesser. But still is necessary more number of cases for best conclusions.

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With the object to determine the utility of C-reactive protein (CRP) in the diagnosis of neonatal sepsis. We proceeded to create the prospective study of cases and controls of newborn included in the study of neonatal sepsis in the Instituto Nacional de Perinatologia. We measured the seric CRP in samples obtained by capillary punction simultaneously with blood culture and/or CSF culture, for bacterial infection criteria. We included 64 newborn divided in two groups: 42 patients were not infected and 22 cases had positive cultures. The results in the uninfected newborn group of CRP were negative to positive dilutions 1:32; with the newborn infected the CRP had values of 1:32 to 1:2048. The probability to find values equal or major to 1:32 in the infected newborn with positive cultures the CRP have values of sensitivity of 91% and specificity of 93% to get this values. We accept that the CRP could be used systematically for the diagnosis of neonatal sepsis, being a simple procedure and accessible for use in the newborn with sepsis suspicion.

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