Drogas de abuso en detenidos en el juzgado de guardia: repercusión en el ámbito penal / Drugs of abuse in detainees at the Court: Criminal justice repercussion

Objetivos. El consumo de drogas no institucionalizadas tiene una importante dimensión epidemiológica. En la actualidad, aumenta el consumo de cocaína y de cannabis, y se estabiliza o disminuye el de opiáceos. En la mayoría de los países hay una relación entre la drogadicción y el delito. Los objetivos del estudio son: a) obtener datos sociodemográficos en una población detenida que pasa a disposición judicial; b) recoger datos sanitarios referentes a infección por el virus de la inmunodeficiencia humana (VIH) y el virus de la hepatitis B (VHB) y C (VHC); c) obtener datos de consumo de cocaína, hachís, heroína, benzodiacepinas y drogas de síntesis y d) valorar la relación de la adicción a drogas con la delictología. Material y métodos. Estudio realizado en una población de 150 sujetos consumidores de drogas ilegales en los juzgados de guardia de la ciudad de Barcelona, durante un año y medio. Se ha administrado un cuestionario con datos sociodemográficos, sanitarios y de consumo de tóxicos. Obtención de una muestra de orina que se analizó por enzimoinmuno ensayo en el analizador AsXym (Abbott). Los resultados se interpretaron como positivos o negativos según el punto de corte establecido para el método. Resultados. El perfil de la muestra es un varón soltero, con estudios primarios y sin profesión tipificada. La droga ilegal más consumida es la cocaína(77,5 %), seguida de los opiáceos (62,9 %), de las benzodiacepinas en el 61,6 % (automedicadas40,9 %) y del cannabis (60,3 %). La prevalencia clínica del VIH fue del 16,7 %, del VHB del 19,1 % y del VHC del 37,9 %. El delito más relacionado con el consumo de drogas fue el hurto. Conclusiones. Se detecta un alto consumo de cocaína y una disminución del de heroína. El consumo (..) (AU)

Objective. The consumption of illicit drugs has an important epidemiological significance. Actually cocaine and cannabis use are increasing and opiates consumption is declining. Every where relation between drug abuse and delinquency is established. The aims of the study were: a) to determine sociodemographic data related to drug consumption in a jail detents sample at court department; b) to obtain healthy data referring to VIH, VHB and VHC infections; c) to obtain cocaine, hachis, heroine, benzodiazepines and synthesis drugs consume data and d) to evaluate the relation between the addiction to drugs with the delictology. Matherial and methods. Study realized in a population of 150 subject consumers of illegal drugs in the courts of policeman of the city of Barcelona, during a year and half (AU)

Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

Hyperphenylalaninemia (HPA) comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase (PAH) gene mutations. We investigated PAH mutations in 126 HPA patients from Southern Italy who were identified in a neonatal screening program. The promoter, coding and exon-flanking intronic sequences of the PAH gene were amplified and sequenced. Mutations were identified in 240/249 alleles (detection rate: 96.4%). We found 60 gene variants; the most frequent were p.R261Q (15.7% of alleles), p.A403V (11.6% of alleles) and c.1066-11G > A (8.8% of alleles). The remaining mutations were rare, and ten are novel. This mutation epidemiology differs from that reported for Northern Italy and other European countries. We also identified several discordant genotype/phenotype correlations. About two-thirds of all mild phenylketonuria patients showed at least one tetrahydrobiopterin (BH4)-responsive mutation, and are thus candidates for a customized therapeutic approach.

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

We report a 3-year-old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonaemia, coagulopathy and moderate hypertransaminasaemia were detected on hospital admission. Severe hepatocellular necrosis with hypertransaminasaemia (aspartate aminotransferase 20,000 UI/L, alanine aminotransferase 18,400 UI/L) and coagulopathy (PT < 5%) rapidly developed within few days, prompting evaluation for liver transplantation. A protein-restricted diet and arginine supplementation were immediately started, with a rapid improvement of the patient's neurological conditions and normalization of liver function tests and blood ammonia. The diagnosis of HHH syndrome was based on the presence of the typical metabolic abnormalities. Molecular analysis of the SLC25A15 gene showed that the patient was heterozygous for two novel mutations (G113C and M273K). The diagnosis of HHH syndrome should be considered in patients with fulminant hepatitis-like presentations. Early identification and treatment of these patients can be life-saving and can avoid liver transplantation.

Bioquímica postmortem: comparación de tres métodos de análisis / Post-mortem biochemistry: a comparison of three analytical methods

La tanatoquimia es una rama auxiliar importante en medicina forense aunque tiene sus limitaciones. Se ha enfatizado el examen de fluidos que no se alteran con tanta rapidez como la sangre después de la muerte. El humor vítreo, líquido pericárdico, líquido cefalorraquídeo o líquido sinovial se han utilizado con estos fines. Objetivos: comparar los valores de colesterol en sangre, glucosa y potasio en humor vítreo y creatincinasa en líquido pericárdico en tres analizadores y métodos diferentes a fin de validar dos de ellos para análisis postmortem. El tercero se tomó como método de referencia. Material y Métodos: estudio observacional analítico de muestras procedentes de 55 cadáveres que ingresaron para autopsia judicial en el Instituto Anatómico Forense de Barcelona. Los análisis se realizaron en los Analizadores Spotchem EZ (química seca) y Spotchem EL (potenciometría de electrodo ión selectivo, Menarini Diagnostics) y Reflotron (química seca, Roche Diagnostics). Como método de referencia se analizaron las muestras en varios multianalizadores: Hitachi 911, Cobas Integra 800 (ambos de Roche Diagnostic y Vitros 250 Johnson-Johnson). Resultados: se hallaron diferencias significativas entre los valores de colesterol del método de referencia y los dos ensayados. Los valores de potasio presentaron diferencias significativas entre el método de referencia y el de Reflotron pero no entre el valor de referencia y el de Spotchem EZ con r = 0,852. No pudieron evaluarse los valores de glucosa ni de CK por dispersión de valores y dificultad de medición en los dos analizadores ensayados.Conclusiones: los resultados obtenidos con estos dos métodos de química seca, no validados por el fabricante para ensayos postmortem, no permiten considerar su utilidad en el medio forense aunque su utilidad en la práctica clínica está ampliamente documentada (AU)

Thanatochemistry is an important procedure in forensic medicine. Emphasis has been upon fluids that do not alter as quickly as blood, after death. Vitreous humor, spinal fluid, pericardic fluid and sinovial fluid have been used. Aims: to compare values of cholesterol in blood, glucose and potassium in vitreous humor and creatinkinase in pericardial fluid. The data were obtained from three different methods and analyzers, the third of which was considered as the reference method. Materials and methods: samples were obtained from 55 corpses in the Pathology department of the Legal Medicine Institute in Barcelona. Analyzers were: Spotchem EZ (Lab. Menarini) dry-chemistry method, Spotchem EL (Lab. Menarini) ion selective potenciometry for potassium and Reflotron (Lab. Roche) dry-chemistry method. The reference method analizers were Hitachi 911, Cobas Integra 800 and Vitros 259. Results: significative differences were found in cholesterol values between the dry chemistry methods and the reference method as well as potassium values between the dry chemistry method and the reference method. No differences were found between the potassium ion selective potenciometry method and the reference method. Glucose and creatinkinase results were not considered because of great dispersion values. Conclusions: results obtained with the dry-chemistry methods do not allow consideration of its usefullness in forensic practice (AU)

Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations.

BACKGROUND: Although linkage studies strongly suggest that proopiomelanocortin (POMC) alterations could play a role in the genetic predisposition to obesity, systematic POMC mutational analysis did not completely confirm this hypothesis. OBJECTIVES: To verify the presence of mutations of the POMC coding region in Italian children with very early onset obesity. SUBJECTS AND METHODS: Eighty seven unrelated Italian obese children and adolescents were studied. Mean age at obesity onset was 4.7+/-2.5 y. The POMC gene coding region was screened using single-strand conformation polymorphism (SSCP) analysis. Bi-directional automatic sequencing of PCR products was performed for all individuals who showed an aberrant SSCP pattern. RESULTS: Three new mutations have been identified in the heterozygous state in three patients: (a) G3834C, resulting in the substitution of Ser with Thr at codon 7 within the POMC signal peptide; (b) C3840T, resulting in the substitution of Ser with Leu at codon 9 of the pre-proopiomelanocortin signal peptide; and (c) C7406G, producing the substitution of Arg with Gly at codon 236 within the beta-endorphin peptide. A polymorphism consisting of a 9 bp insertion, AGC AGC CGC, between position 6997 and 6998 has been found at the heterozygous state in nine patients. They showed leptin levels adjusted for BMI, gender and pubertal stage significantly higher than obese subjects homozyous for the POMC wild-type allele. CONCLUSIONS: Mutations in codons 7 and 9 of the signal peptide may alter the translocation of the pre-proopiomelanocortin into the endoplasmic reticulum and, therefore, can be implicated in obesity. Although further studies are required, the polymorphism between position 6997 and 6998 may represent one of the genetic variations that explain the linkage between obesity and POMC. International Journal of Obesity (2001) 25, 61-67

[Recurrent asthmatic bronchitis in the first years of life: a 3-year follow-up]. / Bronchiti asmatiche ricorrenti nei primi anni di vita: 3 anni di follow-up.

The natural history of asthma is not well known; its origin may go back to just after the birth. The aims of this study are: 1) studying the evolution of the symptomatology of a group of children suffering from recurrent asthmatic bronchitis of a moderate-severe level in the first two years of life; 2) inquiring some risk factors conditioning the evolution of it. One hundred children, aged from 16.6 to 53.4 months, suffering from moderate to severe recurrent asthmatic bronchitis, have been checked at the follow-up at the Broncopneumologic and Allergic Pediatric Unit of the SS Annunziata Hospital (Naples). Among the 100 children checked, 25 have been dropped at the follow-up; the difference between the sample checked and the one dropped at the follow-up is not statistically relevant. Four are variables examined: age, allergic medical history, number of asthma episodes, breast feeding, association or not of atopic dermatitis. The evolution of the symptomatology has not been propitious, as, at the end of three years of analysis, 73.3% of the 5-year-old patients had still persistent asthma. The risk factors of asthma recurrence are: parents smoking habits with a relative risk of 18 times more in patients with disadvantageous evolution (R.R. = 18) and at a less measure the overcrowding of the bedroom (R.R. = 1.5). The age at the onset in of the symptomatology, the positive familiar medical history for allergic illness, the breast feeding and the atopic dermatitis have not resulted statistically different between the group with advantageous evolution and the one with disadvantageous outcome. Passive smoking is a very disadvantageous prognostic factor; it may contribute to the disadvantageous evolution of the moderate to severe asthmatic bronchitis in the early childhood towards the recurrent or chronic bronchial asthma of the late childhood.

[Children at social risk and the utilization of health services]. / I bambini a rischio sociale e l'utilizzazione dei servizi sanitari.

To investigate the association between social risk factors and access to emergency health services, 333 children, with a medium age of 39.1 months, have been recruited. 31.2% of these children had at least one social risk factor. After 12 months through a phone call we evidentiated that children with social risk showed an access to emergency services about double (relative risk factor more than double) in respect to children with no social risk factors.

Blood pressure ranges in premature infants: II. The first week of life.

OBJECTIVE: To examine the arterial blood pressure in the first week of life in a healthy premature population. DESIGN: Population-based cohort study. SETTING: Three intensive care nurseries in central New Jersey. PATIENTS: Premature infants with birth weights less than 2000 g. MAIN OUTCOME MEASURES: We documented daily maximum and minimum systolic and maximum and minimun diastolic blood pressures during the first 7 days of life. To examine the effects on the ranges of blood pressure, we identified four groups of infants: (1) healthy infants without any of the major risk factors (n = 193); (2) infants who were mechanically ventilated but free of any of the other conditions (n = 225); (3) infants with histories of maternal hypertension or preeclampsia (n = 38) and (4) infants with low Apgar scores (less than 3 at 1 minute and less than 6 at 5 minutes) regardless of the presence of other conditions (n = 86). RESULTS: Blood pressure increased steadily in the first week of life in all four groups. There was no relationship between any of the four blood pressure variables, or trends in blood pressure over time, with birth weight, gender, or race. Regression equations (based on all infants with available data) for blood pressure ranges by day of life revealed that the maximum systolic blood pressure increased by 2.6 mm Hg/d, the minimum systolic blood pressure increased by 1.8 mm Hg/d,the maximum diastolic blood pressure increased by 2.0 mm HHg/d, and the minimum diastolic blood pressure increased by 1.3 Hg/d. CONCLUSIONS: Infants with birth asphyxia and ventilated infants had significantly lower systolic and diastolic blood pressures than healthy infants.

The incidence of gastroesophageal reflux in preterm infants.

We observed an increased incidence of gastroesophageal reflux (GER) in a group of preterm infants. Seventy-five infants (birth weight 1117 +/- 242 gm, gestational age 30 +/- 3 weeks) were tested within 1 week before hospital discharge (37 to 38 weeks postconceptional age). All of the infants had a two-channel pneumocardiogram and a 1-hour esophageal pH study (Tuttle test). Home monitors were used for all infants after hospital discharge and their use was maintained until standard discontinuation criteria were achieved. The Tuttle test was abnormal in 47 (63%) of the infants. Of the 47 infants with GER, 22 (47%) had evidence of obstructive apnea during the periods of reflux and 32 (68%) had an abnormal PCG result. Thirty-eight (81%) of the infants with GER had episodes of either obstructive or central apnea. The diagnosis of GER is important in premature infants because of the high association with recurrent or obstructive apnea.

Blood pressure ranges in premature infants. I. The first hours of life.

We studied blood pressure in the first hours of life in a cohort of 1105 preterm infants weighing 501 to 2000 gm; these infants represented 83% of all births at these weights that resulted in admission to three intensive care nurseries during a 34-month period between 1984 and 1987. To assess the effects of specific risk factors, we identified 244 healthy infants, 164 infants who received mechanical ventilation but had no other conditions, 47 infants whose only risk factor was the presence of hypertension or preeclampsia in the mother, and 86 infants with depressed Apgar scores regardless of the presence of the other conditions. We documented each infant's minimum and maximum systolic (Smin, Smax) and diastolic (Dmin, Dmax) pressures during the first 3 to 6 hours of life. In the healthy group, Smin was 47 mmHg; Smax, 59 mmHg; Dmin, 24 mmHg; and Dmax, 35 mmHg. In the ventilation group, Smin was 41 mmHg; Smax, 57 mmHg; Dmin, 22 mmHg; and Dmax, 35 mmHg. The Smin and Dmin values were both significantly lower in infants who received mechanical ventilation than in healthy infants (p < 0.01). In the maternal hypertension group, Smin was 49 mmHg; Smax, 59 mmHg; Dmin, 25 mmHg; and Dmax, 34 mmHg. Only the Smin value was significantly higher than in healthy infants. In the group with low Apgar scores, Smin was 33 mmHg; Smax, 51 mmHg; Dmin, 19 Hg; and Dmax, 34 mmHg. Thus all these values were significantly lower than in all the other groups (p < 0.05). Of infants with low Apgar scores, 20% to 50% had values below the 5th percentile for healthy infants. Birth weight and gestational age correlated with blood pressure limits only in the infants with low Apgar scores. We conclude that in healthy premature infants the limits of systolic and diastolic blood pressure are independent of birth weight and gestational age. Infants with low Apgar scores tend to have lower pressures, and infants whose mothers have hypertension have higher pressures than infants in the healthy cohort.

Cardiorespiratory recordings from infants dying suddenly and unexpectedly at home.

OBJECTIVE: Little is known about the mechanism of death during sudden infant death. To study the mechanism, we obtained data on six infants who died while on a memory-equipped cardiorespiratory monitor. METHODS: Waveforms of respiration and heart rate trend were available for five infants; an alarm log only was available for the sixth. These printouts were reviewed with attention to mechanism and time to death. RESULTS: All infants were born prematurely; autopsies reported the cause of death as sudden infant death syndrome in three cases and bronchopulmonary dysplasia in the others. Bradycardia, which played a more prominent role than central apnea, was preceded by tachycardia in two deaths. Resuscitation occurred within 1 minute in four cases; no response to alarms occurred in the other two cases, apparently because the parents were desensitized by prior meaningless alarms. Five patients died within 20 minutes, whereas one death due to sudden infant death syndrome was prolonged. CONCLUSION: Bradycardia is an important feature in all six of these infant deaths. Although its etiology is unknown, hypoxemia or obstructive apnea may precede bradycardia. Home monitors equipped to detect these possible antecedents will yield further insight into sudden infant death.

Sudden infant death syndrome and subsequent siblings.

Studies indicate that at least 98 (SIDS) in subsequent siblings, summarizes the results of percent of all subsequent SIDS siblings will have a normal outcome. While the data regarding a single SIDS occurrence can be viewed as encouraging, 2 percent mortality is not trivial. Parents of SIDS siblings are in need of appropriate counseling and support. In the unfortunate case of subsequent sibling SIDS deaths, the mortality rate may be as high as 18 percent. Regretably, all attempts at prospective identification of infants destined to die of SIDS have proved futile. The development of a prospective screening test has been hindered by insufficient understanding of the specific cause or causes of SIDS. Attention, thus, has been directed at the development of effective home intervention. Cardiorespiratory monitoring has been identified as one means of home intervention, and a comprehensive support program has resulted in the successful home monitoring of many infants at high risk for SIDS. Studies aimed at making prospective identification a clinical reality continue. Accordingly, we must persist in our efforts to provide support to parents who have experienced one of life's worst tragedies.