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1.
BMC Pediatr ; 23(1): 336, 2023 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-37393233

RESUMO

BACKGROUND: Impaired intestinal microcirculation seems to play an important role in the pathogenesis of necrotizing enterocolitis (NEC). A previous study showed that a SrSO2 < 30% is associated with an increased risk of developing of NEC. We aimed to determine the clinical usefulness of the cut off < 30% for SrSO2 in predicting NEC in extremely preterm neonates. METHODS: This is a combined cohort observational study. We added a second cohort from another university hospital to the previous cohort of extremely preterm infants. SrSO2 was measured for 1-2 h at days 2-6 after birth. To determine clinical usefulness we assessed sensitivity, specificity, positive and negative predictive values for mean SrSO2 < 30. Odds ratio to develop NEC was assessed with generalized linear model analysis, adjusting for center. RESULTS: We included 86 extremely preterm infants, median gestational age 26.3 weeks (range 23.0-27.9). Seventeen infants developed NEC. A mean SrSO2 < 30% was found in 70.5% of infants who developed NEC compared to 33.3% of those who did not (p = 0.01). Positive and negative predictive values were 0.33 CI (0.24-0.44) and 0.90 CI (0.83-0.96), respectively. The odds of developing NEC were 4.5 (95% CI 1.4-14.3) times higher in infants with SrSO2 < 30% compared to those with SrSO2 ≥ 30%. CONCLUSIONS: A mean SrSO2 cut off ≥ 30% in extremely preterm infants between days 2-6 after birth may be useful in identifying infants who will not develop NEC.


Assuntos
Enterocolite Necrosante , Doenças Fetais , Doenças do Recém-Nascido , Lactente , Feminino , Recém-Nascido , Humanos , Lactente Extremamente Prematuro , Enterocolite Necrosante/diagnóstico , Estudos de Coortes , Idade Gestacional
2.
Br J Anaesth ; 121(2): 427-431, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30032881

RESUMO

BACKGROUND: Alpha-1-acid glycoprotein (AAGP) is an acute-phase protein with high affinity for amide local anaesthetics (LAs), and a major determinant of free and potentially toxic concentrations of LAs in plasma. Neonates are known to have lower plasma concentrations of AAGP than adults, and are at risk of developing high free concentrations of LAs. Data regarding AAGP in newborns are so far sparse. The aim of this study was to determine plasma concentrations of AAGP after delivery of preterm and term infants, and to investigate correlations between AAGP and gestational age, birth weight, gender, and mode of delivery. METHODS: In this prospective observational study, blood was sampled from umbilical cords of 70 newborn infants born at gestational weeks 27-42 immediately after delivery. Blood samples were subsequently analysed for AAGP plasma concentrations with an immunoturbidimetric assay. RESULTS: We found higher concentrations of AAGP in infants born vaginally compared with those who were delivered by elective Caesarean section [median (inter-quartile range) 0.189 g litre-1 (0.142-0.263 g litre-1) vs 0.110 g litre-1 (0.094-0.157 g litre-1; P=0.0003)], respectively. There was a correlation between gestational age and AAGP concentrations (r=0.50; P=0.011), with significantly higher concentrations in the more mature infants. Gender and birth weight did not appear to influence the plasma concentrations of AAGP. CONCLUSIONS: Alpha-1-acid glycoprotein concentrations in newborns are influenced both by gestational age and mode of delivery. Thus, when dosing local anaesthetics in a parturient, these factors should be taken into account.


Assuntos
Anestésicos Locais/sangue , Proteínas Sanguíneas/metabolismo , Parto Obstétrico/métodos , Recém-Nascido Prematuro/sangue , Orosomucoide/análise , Adulto , Peso ao Nascer , Cesárea , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Prospectivos , Ligação Proteica , Caracteres Sexuais
3.
Acta Paediatr ; 104(11): 1077-83, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26100071

RESUMO

AIM: Electrolyte balances have not been sufficiently evaluated in extremely preterm infants after early parenteral nutrition. We investigated the risk of early hypophosphatemia and hypokalemia in extremely preterm infants born small for gestational age (SGA) who received nutrition as currently recommended. METHODS: This prospective, observational cohort study included all consecutive extremely preterm infants born at 24-27 weeks who received high amino acids and lipid perfusion from birth. We evaluated the electrolyte levels of SGA infants and infants born appropriate for gestational age (AGA) during the first five days of life. RESULTS: The 12 SGA infants had lower plasma potassium levels from Day One compared to the 36 AGA infants and were more likely to have hypokalemia (58% vs 17%, p = 0.001) and hypophosphatemia (40% vs 9%, p < 0.01) during the five-day observation period. After adjusting for perinatal factors, SGA remained significantly associated with hypophosphatemia (odds ratio 1.39, confidence intervals 1.07-1.81, p = 0.01). CONCLUSION: Extremely preterm infants born SGA who were managed with currently recommended early parenteral nutrition had a high risk of early hypokalemia and hypophosphatemia. Potassium and phosphorus intakes should be set at sufficient levels from birth onwards, especially in SGA infants.


Assuntos
Hipopotassemia/epidemiologia , Hipofosfatemia/epidemiologia , Nutrição Parenteral , Fatores Etários , Estudos de Coortes , Feminino , Humanos , Hipopotassemia/etiologia , Hipofosfatemia/etiologia , Lactente Extremamente Prematuro , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Masculino , Nutrição Parenteral/efeitos adversos , Estudos Prospectivos
4.
Acta Paediatr ; 99(4): 531-6, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20050830

RESUMO

BACKGROUND: Induced moderate hypothermia (HT) for 72 h has been shown to reduce the combined outcome of death or severe neurodevelopmental disabilities in asphyxiated full-term infants. A pathological amplitude integrated EEG background as early as 3-6 h after birth, has been shown to correlate to poor prognosis. AIM: The aim of this study was to investigate the correlation between amplitude integrated EEG during HT treatment and short-term outcome in asphyxiated full-term infants with moderate/severe hypoxic-ischaemic encephalopathy. METHODS: Between December 2006 and December 2007, 24 infants were treated with moderate HT (33.5 degrees C for 72 h) using a cooling mattress. Motor functions were assessed at 4 and 12 months of age. RESULTS: Of the total birth cohort of 28,837 infants, 26 infants fulfilled the criteria for HT treatment (0.9/1000) of whom 23 was treated with HT and all of these infants had available amplitude integrated EEG data. Normal 1-year outcome was found in 10/15 infants with severely abnormal burst-suppression pattern or worse at 6 h of age. Severe abnormalities were found to be significantly predictive for abnormal outcome after 36 h. CONCLUSION: Among asphyxiated infants treated with HT, only those who had aEEG abnormalities persisting at and beyond 24 h after birth showed poor neurological outcome at 1 year.


Assuntos
Asfixia Neonatal/terapia , Eletroencefalografia/métodos , Hipotermia Induzida/métodos , Hipóxia-Isquemia Encefálica/diagnóstico , Asfixia Neonatal/complicações , Asfixia Neonatal/mortalidade , Diagnóstico Precoce , Seguimentos , Humanos , Hipóxia-Isquemia Encefálica/etiologia , Hipóxia-Isquemia Encefálica/mortalidade , Recém-Nascido , Seleção de Pacientes , Prognóstico , Nascimento a Termo , Resultado do Tratamento
5.
Eur Rev Med Pharmacol Sci ; 21(9): 2061-2068, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28537680

RESUMO

OBJECTIVE: We aim to present clinical features, imaging findings, treatment aspects of the elastofibroma dorsi (ED), which is a benign tumor arising from connective tissue at the scapular region, and long-term outcomes after surgical resection. PATIENTS AND METHODS: We evaluated retrospectively 82 patients (55 females, 27 males; mean age, 60 years; age range, 23-78 years) with ED who underwent surgery between January 1994 and May 2014; subsequently all patients were invited for follow-up, which consisted of physical and US examinations. RESULTS: Subscapular location was almost constant (79/82 patients). Right, left and bilateral location was noted in 39, 28 and 15 cases, respectively. 52/82 patients were symptomatic. The diagnosis was made on physical examination and imaging studies: 49 ultrasound, 43 computed tomography and 54 magnetic resonance examinations were performed overall. Surgical treatment consisted in marginal excision; in all cases diagnosis was confirmed by histological examination. The mean hospitalization was 3 days, with minor complications. Out of the 82 patients, only 25 gave their consent to follow-up; mean time passed after surgery was 64.7 months; 1 case of local recurrence was suspected by ultrasound and, then, confirmed by magnetic resonance imaging. CONCLUSIONS: In our series, clinical features and imaging findings of ED are consistent with current evidence; however, results of our follow-up group marks a difference from the literature, according to which there is no evidence of local recurrence after complete resection. Diagnosis of ED is based on clinical and imaging features; treatment is surgical, especially in symptomatic cases. Prolonging the clinical and US follow-up period may be useful in identifying local recurrence.


Assuntos
Fibroma/diagnóstico , Imageamento por Ressonância Magnética/métodos , Neoplasias de Tecidos Moles/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Feminino , Fibroma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Estudos Retrospectivos , Neoplasias de Tecidos Moles/cirurgia , Adulto Jovem
6.
J Ultrasound ; 18(3): 205-11, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26261462

RESUMO

OBJECTIVE: The aim of this study was to determine the role of ultrasound in the diagnosis and treatment of pediatric patients with acute abdominal pain caused by intussusceptions. MATERIALS AND METHODS: We performed a retrospective study of all pediatric patients with acute abdominal pain caused by intussusceptions and that underwent ultrasound examination at the emergency service of the Radiology Department between November 2007 and June 2013. The role of ultrasonography in the diagnosis of intussusceptions has been assessed by comparing the echographic presumptive diagnosis with the final diagnosis of discharge. Its importance in the treatment has been assessed by determining the value of ultrasound findings in the choice of the best treatment. RESULTS: The ultrasound examination was positive in 16/18 patients with a final diagnosis of intussusception. Some sonographic findings seemed to be able to predict the opportunity to resort to non-surgical therapeutic options like hydrostatic or pneumatic reduction of the intestinal segments invaginated. In our casuistry, five children presented characteristics typical of this subgroup and underwent barium enema which provided the reduction of the intestinal segments involved. The future challenge will be to perform non-surgical ultrasound-guided reductions to avoid the exposure of the infants to ionizing radiations. CONCLUSIONS: Ultrasonography is essential not only in the diagnosis, but also it adds important elements in the therapeutic choice and could play in the future an important role in non-surgical reduction of intestinal intussusceptions in pediatric patients.

7.
J Neurol Sci ; 170(1): 32-5, 1999 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-10540033

RESUMO

The aim of this study was to assess the use of S100 protein in blood as a means of identifying preterm infants at risk of intraventricular hemorrhage. In 25 preterm newborns, S100 blood concentrations were measured by an immunoradiometric assay during the first 48 h. Cerebral Doppler velocimetry waveform patterns were also tested at the time the blood sample was taken, when clinical and cerebral ultrasound scanning were still normal. Of the 25 newborns studied, 14 were controls and 11 developed intraventricular hemorrhage as revealed by ultrasound scanning more than 72 h after birth, and clinically confirmed by neurological examination on the seventh day of follow-up. S100 blood concentrations were significantly higher (P<0.002) in infants with intraventricular hemorrhage than in control infants and also correlated significantly (r=0.81, P<0.003) with the grade of hemorrhage. A significant correlation (r=0.70, P<0.05) between the S100 blood concentration and the middle cerebral artery pulsatility index was also observed. The present data show that S100 blood concentrations offer a measurable parameter of brain lesion in preterm infants before a radiological assessment of hemorrhage can be performed, when clinical symptoms may be silent and preventive/therapeutic action could be especially useful.


Assuntos
Hemorragia Cerebral/sangue , Hemorragia Cerebral/diagnóstico por imagem , Circulação Cerebrovascular , Recém-Nascido Prematuro , Proteínas S100/sangue , Velocidade do Fluxo Sanguíneo , Artérias Cerebrais/fisiopatologia , Hemorragia Cerebral/mortalidade , Hemorragia Cerebral/fisiopatologia , Humanos , Recém-Nascido , Exame Neurológico , Concentração Osmolar , Fluxo Pulsátil , Ultrassonografia
8.
Med Biol Eng Comput ; 35(6): 703-7, 1997 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9538549

RESUMO

Transcephalic electrical impedance offers a technique for non-invasive, cot-side monitoring of neonatal cerebral circulation but the exact nature of the signal is somewhat ambiguous. The impedance signal is examined in an animal project where the ventilator settings are adjusted (20 min-1-10 min-1-40 min-1 for 10 min periods each) to produce circulatory changes. Six juvenile pigs are intubated, and ECG, arterial blood pressure, carotid flow (CF) by electromagnetic flowmeter and impedance are continuously monitored and stored on analogue tape. Cardiac output by thermodilution, blood oxygen (pO2) and carbon dioxide (pCO2) tensions are measured. ECG is converted to heart rate, mean blood pressure is integrated, and the high-frequency (1.50-4.00 Hz) component of the impedance signal delta Z is computed using autoregressive spectral estimation. Stroke volume, peripheral vascular resistance (PVR) and cerebral vascular resistance (CVR) are calculated. pCO2 and CF increase and pO2 decreases during hypoventilation. CF correlates positively with cardiac output, stroke volume, delta Z and pCO2, and negatively with pO2 and CVR. delta Z correlates positively with heart rate and cardiac output, and negatively with PVR and CVR. It is concluded that the impedance signal is related to the amount of blood transmitted to the brain by every beat of the heart, depending on the changes in both the systemic circulation and the cerebral vascular compliance.


Assuntos
Circulação Cerebrovascular , Eletrodiagnóstico/métodos , Animais , Impedância Elétrica , Hemodinâmica , Monitorização Fisiológica/métodos , Suínos
9.
Comput Methods Programs Biomed ; 59(1): 61-73, 1999 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10215178

RESUMO

The implementation of a real-time multichannel system for monitoring cerebral blood-flow is described. The instrument relies on a completely modular architecture and is based on the principle of measuring the electrical impedance between a number of periodically sensed electrode pairs positioned around the subject's head. The whole setup is controlled by a host computer that performs several functions, such as real-time acquisition, analysis, display and data logging. Two operating options can be chosen by the user: a normal mode that allows continuous monitoring and a triggered mode in which the measurement cycle is automatically started by the occurrence of a preset condition in some other circulatory signal, e.g. the permanently available ECG signal. The design is considerably user-friendly and embodies a number of special safety precautions to take account of the peculiar condition of patients, usually newborn infants hospitalized in intensive care units.


Assuntos
Circulação Cerebrovascular/fisiologia , Unidades de Terapia Intensiva Pediátrica , Sistemas Automatizados de Assistência Junto ao Leito , Humanos , Recém-Nascido
10.
Minerva Chir ; 36(3): 143-50, 1981 Feb 15.
Artigo em Italiano | MEDLINE | ID: mdl-6974832

RESUMO

Pathological involvement of the colon secondary to acute and chronic pancreatitis is a rare complication of major clinical interest. Contiguity with the tail of the pancreas and certain anatomical relationships, particularly at the level of the peritoneal reflections, explain the involvement of, particularly, the left corner of the colon and the adjacent part of the transverse colon. The clinical forms may be listed as follows: 1) Adynamic ileus of the transverse colon associated, on direct radiological examination, with the picture of proximal colon distension with clear-cut interruption at the level of the transverse colon or left flexure. 2) Stenosis of the left flexure due to pericolitis and to the fibrosclerosing process that may take in other contiguous organs also. 3) Fistula of the left flexure or of the adjacent part of the transverse colon due to parietal necrosis and vascular impairment. Also described is an association of fistula and massive haemorrhage for erosion of the colon and of the splenic artery by pancreatic pseudocyst. Two clinical cases are presented along with the basic elements of pathology, diagnosis and therapy.


Assuntos
Doenças do Colo/etiologia , Pancreatite/complicações , Idoso , Colite/etiologia , Hemorragia Gastrointestinal/etiologia , Humanos , Fístula Intestinal/etiologia , Obstrução Intestinal/etiologia , Masculino , Pessoa de Meia-Idade , Pseudocisto Pancreático/complicações , Esclerose
12.
Neonatology ; 94(4): 320-2, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18784432

RESUMO

Several studies of peripheral measurements with near infrared spectroscopy (NIRS) and venous or arterial occlusion have been performed in neonates. Results have been variable. Reasons include differences in patient populations, technical aspects of the devices used or the way measurements were made. It is therefore important that there should be common elements for measurement protocols. This statement proposes a standardised approach to allow comparison between different study populations and devices.


Assuntos
Braço/irrigação sanguínea , Perna (Membro)/irrigação sanguínea , Oxigênio/sangue , Espectroscopia de Luz Próxima ao Infravermelho/métodos , Humanos , Recém-Nascido , Oxigênio/metabolismo , Guias de Prática Clínica como Assunto , Fluxo Sanguíneo Regional
13.
Minerva Pediatr ; 48(7-8): 337-40, 1996.
Artigo em Italiano | MEDLINE | ID: mdl-8965766

RESUMO

We describe a case of congenital non-obstructive dilatation of the hepatic bile ducts (Caroli disease). The accuracy of ultrasound for the diagnosis of this syndrome is pointed out. Ultrasound scan can be carried out easily and with a remarkable imaging precision. The ultrasonographic patterns consist of both evident dilatation of the ducts and characteristic protrusions connecting the ductal walls to intraluminal portal branches (bridging). These sonographic findings confirm the etiopathogenetic hypothesis according to which Caroli disease is a result of the blockage of the bile ducts development. Moreover, we underline the efficacy of ursodeoxycholic acid in the treatment of the chronic cholestasis, always present in this disease.


Assuntos
Ductos Biliares Intra-Hepáticos/embriologia , Doença de Caroli/diagnóstico por imagem , Ductos Biliares Intra-Hepáticos/fisiopatologia , Doença de Caroli/etiologia , Humanos , Lactente , Masculino , Ultrassonografia
14.
Pediatr Res ; 48(1): 18-23, 2000 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10879795

RESUMO

In mammals, perception of smells during the first hours of life is an essential prerequisite for adaptation of the newborn to the new extrauterine world. Functional magnetic resonance studies have shown that olfactory impression is processed in the lateral and anterior orbito-frontal gyri of the frontal lobe. Near-infrared spectroscopy (NIRS) can detect changes in oxygenated [Hb O2], and deoxygenated [Hb H] Hb during cortical activation. The aim of this study was to assess by NIRS olfactory cortex activity in newborn infants receiving olfactory stimuli. Twelve males and 11 females were studied when awake at 6 h to 8 d after birth. NIRS monitoring was carried out using two optodes placed above the left anterior orbito-frontal gyri. Each newborn was exposed for 30 s to two different smell stimuli-mother's colostrum and vanilla-and to a negative control, distilled water. Changes in Hb concentration were measured over the orbitofrontal region. During exposure to vanilla, [Hb O2] increased significantly over the left orbito-frontal area in all babies. The magnitude of the [Hb O2] increase over the illuminated region during colostrum exposure was inversely related to postnatal age. We conclude that monitoring Hb changes by NIRS can be valuable in assessing olfactory responsiveness in infants.


Assuntos
Recém-Nascido/fisiologia , Odorantes , Condutos Olfatórios/fisiologia , Olfato/fisiologia , Envelhecimento , Análise de Variância , Circulação Cerebrovascular , Colostro , Aromatizantes , Hemoglobinas/análise , Humanos , Oxiemoglobinas/análise , Análise de Regressão , Espectrofotometria Infravermelho/métodos
15.
Pediatr Res ; 50(3): 324-30, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11518818

RESUMO

Newborn infants in intensive care units are exposed to several unfamiliar smells, mostly related to the nosocomial environment. How the preterm baby perceives these olfactory stimulations remains unclear. Near-infrared spectroscopy can be performed noninvasively above the olfactory cortex to monitor changes of cerebral blood flow as an indicator of cortical activation. The aim of this study was to explore by near-infrared spectroscopy how odorous substances routinely used in the neonatal intensive care unit influence bilateral cortical hemodynamics in the olfactory region of the brains of preterm infants. Specifically, a detergent (Neomidil) and an adhesive remover (Remove) have been tested. Twenty preterm neonates of gestational age 30-37 wk (mean 33.7 +/- 2.3 SD) and postconceptional age 32-37.3 wk (mean 35.5 +/- 2.75 SD) were monitored by near-infrared spectroscopy. Two optode pairs were placed above the anterior orbitofrontal gyri, which is involved in olfactory processing, on each side of the skull. Fifteen babies were exposed to the smell of a disinfectant and five babies to that of a detergent, both applied to small cotton pads. Changes of oxygenated Hb and deoxygenated Hb were recorded before, during, and after a 10-s stimulus. In 17 out of 20 babies, there was a decrease in oxygenated Hb and total Hb after the exposure to the substances. The decrease was significantly greater in the right side than in the left side. This change was different from that observed in our previous study after exposure to colostrum and the pleasant smell of vanilla, which elicited an increase in blood oxygenation in the same region. The biologic significance of this finding is unknown. We conclude that cortical hemodynamic modifications occur in the preterm newborn after exposure to preparations commonly used in the neonatal intensive care unit. A lateralization seems to occur in processing unpleasant olfactory cues.


Assuntos
Circulação Cerebrovascular/fisiologia , Hemodinâmica , Recém-Nascido Prematuro/fisiologia , Odorantes , Olfato/fisiologia , Colostro/química , Detergentes/química , Desinfetantes/química , Lateralidade Funcional , Idade Gestacional , Frequência Cardíaca/fisiologia , Hemoglobinas/metabolismo , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Oxigênio/metabolismo , Respiração , Crânio/anatomia & histologia , Espectroscopia de Luz Próxima ao Infravermelho
16.
Eur Radiol ; 9(9): 1882-5, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10602969

RESUMO

Neonatal hemochromatosis is a rare congenital disorder which affects both fetuses and newborns. It is characterized by hepatocellular failure, often appearing on the first day of life in the form of coagulopathy, hypoalbuminemia, hypoglycemia, and jaundice. Most of the affected infants die early in life, and definitive diagnosis has often been made only by post-mortem evaluation. With the help of MRI, plus increasing awareness of the disorder, diagnosis is now often made early, even in utero. Duplex Doppler sonography does not provide information on siderosis but shows abnormalities in the liver or blood-flow patterns associated with liver disease.


Assuntos
Hemocromatose/diagnóstico , Hepatopatias/diagnóstico , Imageamento por Ressonância Magnética , Ultrassonografia Doppler Dupla , Biópsia , Velocidade do Fluxo Sanguíneo , Diagnóstico Diferencial , Feminino , Hemocromatose/fisiopatologia , Humanos , Recém-Nascido , Fígado/irrigação sanguínea , Fígado/diagnóstico por imagem , Fígado/patologia , Circulação Hepática , Hepatopatias/fisiopatologia
17.
Minerva Pediatr ; 47(4): 135-40, 1995 Apr.
Artigo em Italiano | MEDLINE | ID: mdl-7643812

RESUMO

The association between osteopetrosis and renal acidosis is not accidental, but represents a well-known syndrome with autosomal recessive transmission, due to carbonic anhydrase II(CA II) deficiency. The disease is extremely rare (only few reports in the literature). The diagnosis is confirmed by CA II erythrocyte assay. However, this finding is not essential when the clinical picture is complete, as in the case reported in this paper, which presents a patient with osteopetrosis, proximal tubular acidosis, intracranial calcifications, psychomotor retardation and short stature. Prenatal diagnosis will rely on the genetic study of DNA by molecular probes, since it is already well-known that the coding gene for CA II is on the long arm of chromosome 8 (8q22).


Assuntos
Acidose Tubular Renal/complicações , Rim/fisiopatologia , Osteopetrose/complicações , Acidose Tubular Renal/genética , Acidose Tubular Renal/fisiopatologia , Encéfalo/patologia , Calcinose/complicações , Calcinose/patologia , Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 8 , Sondas de DNA , Humanos , Recém-Nascido , Rim/enzimologia , Masculino , Osteopetrose/genética
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