Partial Syndrome Research Articles

Clinical manifestation of acute cerebral infarcts in multiple arterial territories.

ObjectivesWe aimed to assess frequencies and radiological aspects of single‐ and multiterritory clinical manifestation among patients with acute cerebral infarcts in multiple arterial territories (MACI).Materials & methodsWe retrospectively reviewed admission records and diffusion‐weighted magnetic resonance imaging of patients with MACI admitted to our stroke unit between 2006 and 2017. MACI was defined as acute cerebral ischemic lesions in at least two out of three arterial cerebral territories, that is, the left anterior, right anterior and the bilateral posterior territory. Patients with single‐ and multiterritory clinical manifestation were then compared for topographical distribution of the ischemic lesions, the number of ischemic lesions, and The Oxfordshire Community Stroke Project classification.ResultsOut of 311 patients with MACI, 222 (71.4%) presented with single‐territory clinical manifestation. Involvement of the left hemisphere (OR = 0.37, 95% CI 0.16–0.82), less than five ischemic lesions (OR = 0.58, 95% CI 0.35–0.97), and partial anterior circulation infarct clinical stroke syndrome (OR = 0.57, 95% CI 0.34–0.97) were associated with single‐territory clinical manifestation. Involvement of all three territories (OR = 2.58, 95% = 1.48–4.50), more than 10 ischemic lesions (OR = 2.30, 95% CI 1.32–4.01) and total anterior circulation infarct clinical stroke syndrome (OR = 3.31, 95% CI 1.39–7.86) were associated with multiterritory clinical manifestation.ConclusionMost patients with MACI present with single‐territory clinical manifestation on admission. Diffusion‐weighted magnetic resonance imaging is therefore necessary for a definite diagnosis.

Fusion of Higher Order Spectra and Texture Extraction Methods for Automated Stroke Severity Classification with MRI Images

This paper presents a scientific foundation for automated stroke severity classification. We have constructed and assessed a system which extracts diagnostically relevant information from Magnetic Resonance Imaging (MRI) images. The design was based on 267 images that show the brain from individual subjects after stroke. They were labeled as either Lacunar Syndrome (LACS), Partial Anterior Circulation Syndrome (PACS), or Total Anterior Circulation Stroke (TACS). The labels indicate different physiological processes which manifest themselves in distinct image texture. The processing system was tasked with extracting texture information that could be used to classify a brain MRI image from a stroke survivor into either LACS, PACS, or TACS. We analyzed 6475 features that were obtained with Gray-Level Run Length Matrix (GLRLM), Higher Order Spectra (HOS), as well as a combination of Discrete Wavelet Transform (DWT) and Gray-Level Co-occurrence Matrix (GLCM) methods. The resulting features were ranked based on the p-value extracted with the Analysis Of Variance (ANOVA) algorithm. The ranked features were used to train and test four types of Support Vector Machine (SVM) classification algorithms according to the rules of 10-fold cross-validation. We found that SVM with Radial Basis Function (RBF) kernel achieves: Accuracy (ACC) = 93.62%, Specificity (SPE) = 95.91%, Sensitivity (SEN) = 92.44%, and Dice-score = 0.95. These results indicate that computer aided stroke severity diagnosis support is possible. Such systems might lead to progress in stroke diagnosis by enabling healthcare professionals to improve diagnosis and management of stroke patients with the same resources.

Acute kidney injury with partial Fanconi syndrome in a patient with leptospirosis: a case report

BackgroundLeptospirosis is an underdiagnosed bacterial infection with nonspecific symptoms, hence, a diagnostic challenge. Identifying a case of leptospirosis in Switzerland is uncommon. Although kidney complications are frequent in severe forms, including tubular dysfunction, observing this complication is rare in our country. We report the case of a patient with leptospirosis and kidney dysfunction, which was notable for proximal tubulopathy. This case report describes the diagnosis and management of this patient’s tubular dysfunction.Case presentationA 34-year-old Caucasian male known for alcohol and drug abuse presented to our emergency department suffering from severe pain in the lower limbs, jaundice, and fever with flu-like symptoms. Physical examination was not contributory. Blood tests showed cytopenia, elevated inflammatory markers, acute kidney injury, and altered liver function tests with predominant cholestasis. Urinalysis showed proteinuria and significant glycosuria without concomitant hyperglycemia. Leptospirosis was suspected and confirmed by both positive serum polymerase chain reaction and elevated immunoglobulin M for Leptospira interrogans. The patient was treated with intravenous amoxicillin–clavulanate and doxycycline for 7 days. After antibiotic treatment, symptoms disappeared, and kidney dysfunction completely resolved.ConclusionOur case focuses on the description of leptospirosis-related acute kidney injury with proximal tubular dysfunction, which is a rare finding in Switzerland.

Left Subclavian Artery Kinking: An Unusual Cause of Partial Subclavian Steal Syndrome

This report describes the case of a 63-year-old asymptomatic patient presenting findings compatible with partial subclavian steal syndrome on color Doppler ultrasound of the carotid and vertebral arteries. The ultrasonic analysis of the cervical vessels showed no apparent cause to justify the subclavian steal. Computed tomographic angiography of the thoracic aorta showed left subclavian artery kinking proximal to the origin of the vertebral artery, an extremely rare finding that led to the subclavian steal. The patient underwent conservative treatment.

198-LB: A Novel Heterozygous Mutation in Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) Gene in a Woman with Familial Partial Lipodystrophy

Background: The nuclear peroxisome proliferator-activated receptor gamma (PPAR-γ) plays a role in the regulation of glucose and lipid metabolism in adipocytes by regulating their differentiation, distribution and function. Heterogeneous mutations of PPAR-γ can cause loss of gene function or reduce its expression leading to a clinical variety of phenotypes that characterize type 3 familial partial lipodystrophy syndrome. The most common features of this syndrome are abnormal body fat accumulation, muscle hypertrophy, insulin resistance, hypertriglyceridemia, polycystic ovary syndrome and hepatic steatosis. Case report: A 32-year-old-woman was referred to the Endocrinology Division of PUC-SP for treatment of a severe hypertriglyceridemia diagnosed 4 years ago with recurrent episodes of acute pancreatitis and eruptive xanthomas since then. Also, diabetes mellitus (DM) was diagnosed 1 year ago with poor glycemic control. Her sister also had severe hypertriglyceridemia, recurrent episodes of acute pancreatitis and died in 2016. No DM was reported in her family. On physical examination, we found the presence of lipodystrophy, acanthosis nigricans on the neck and eruptive xanthomas on trunk, upper limbs, and thighs. BMI=24.9kg/m2; waist circumference=96cm. Abdominal CT scan revealed splenomegaly and fatty liver disease. Genetic sequencing showed a heterozygous (autosomal dominant inheritance) in the PPAR-γ of a Chr3 variant: 12.416.957 T> C (or alternatively c.1073T> C - ENST000002287820), promoting the substitution of leucine in codon 358 by proline (p.Leu358Pro). Conclusion: The substitution of the amino acid leucine in codon 358 for proline is highly conserved in several species, and computer programs for predicting in silico of pathogenicity, suggesting that this new heterozygous mutation in the PPAR-γ gene is probably related to the type 3 familial partial lipodystrophy syndrome. Disclosure P. V. Wanderley: None. J. C. Dias: None. M. W. Vieira: None. G. Garcia: None. I. T. Filho: None. R. F. Chamma: None. L. S. Gugoni: None. R. B. Giorgi: None. C. R. G. Barcellos: None.

Embryonic ethanol exposure on zebrafish early development.

IntroductionEmbryonic exposure to ethanol leads to a condition of physical, behavioral, and cognitive deficiencies named fetal alcohol spectrum disorders (FASD). The most severe variations are in fetal alcohol syndrome (FAS), which is easier to diagnose and not studied in animal models. On the other side, the pFAS (partial fetal alcohol syndrome) includes cases of alcohol‐related congenital disabilities and neurodevelopmental disorder with an inconclusive diagnosis. In recent years, the zebrafish has become a valuable model to study FASD and its variations.MethodsThis study characterizes the zebrafish embryonic and larval development after low and moderate ethanol concentration exposure. Fish eggs were exposed to 0.0%, 0.25%, 0.5%, and 1.0% ethanol at 24 hr postfertilization, and embryonic development was observed every 8 hr up to 120 hpf. It evaluated movements, phenotypic abnormalities, hatching, cardiac function and heartbeat frequency, larvae length at 120 hpf, and the apoptotic cells' fluorescence stained with acridine orange.ResultsEmbryonic exposure to 0.5% and 1% ethanol presented reduced body size, decreased heartbeat rate, higher numbers of apoptotic cells, and hatching time differences.ConclusionsOur results suggest any ethanol exposure during embryogenesis can be harmful and reinforces zebrafish as a suitable model for fetal alcohol spectrum disorders (FASD).

Case report of partial empty sella syndrome: A challenging cocktail for the anesthesiologist

Background: Eventhough panhypopituitarism is a rare endocrine system disease, the clinical manifestation can vary from subclinical to life threatening myxoedema coma. It could be due to either primary pituitary dysfunction/stalk dysfunction/hypothalamic dysfunction.A 32 year old young female who presented with bilateral hip joint pain was diagnosed to have bilateral avascular necrosis of femoral head. On ellicting a detailed clinical history, she underwent treatment for infertility for 7 long years which comprised of multiple ovulation induction agents and finally conceived following in utero insemination. Although the gestational and peripartum period were uneventful, she had agalactorrhea, a warning sign of impending hormonal dysfunction which didn’t seek much attention. Five years down the lane, on evaluation for dyslipidemia, she was found to have hypothyroidism, hypocalcemia, low serum calcitriol levels. A detailed brain imaging studies showed partially emptysella with small remnant pituitary tissue and was started on treatment as a case of panhypopituitarism.

Connectome-based prediction of brain age in Rolandic epilepsy: a protocol for a multicenter cross-sectional study.

BackgroundRolandic epilepsy (RE) is a common pediatric idiopathic partial epilepsy syndrome. Children with RE display varying degrees of cognitive impairment. In epilepsy, age-related neuroanatomic and cognitive changes differ greatly from those observed in the healthy brain, and may be defined as accelerated brain aging. Connectome-based predictive modeling (CPM) is a recently developed machine learning approach that uses whole-brain connectivity measured with neuroimaging data (“neural fingerprints”) to predict brain-behavior relationships. The aim of the study will be to develop and validate a CPM for predicting brain age in patients with RE.MethodsA multicenter, cross-sectional study will be conducted in 5 Chinese hospitals. A total of 100 RE patients (including 50 patients receiving anti-epileptic drugs and 50 drug-naïve patients) and 100 healthy children will be recruited to undergo a neuropsychological test using the Wechsler Intelligence Scale. Magnetic resonance images will also be collected. CPM will be applied to predict the brain age of children with RE based on brain functional connectivity.DiscussionThe findings of the study will facilitate our understanding of developmental changes in the brain in children with RE and could also be an important milestone in the journey toward developing effective early interventions for this disorder.Trial registrationThe study has been registered with Chinese Clinical Trial Registry (ChiCTR2000032984).

Algebraic Decoding of Quasi-Reversible BCH Codes Using Band Matrices

A Bose-Chaudhuri-Hocquenghem (BCH) is called quasi-reversible if there are consecutive elements a <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">1</sub> ,⋯,a <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">2</sub> in the defining set, where a <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">1</sub> is a negative integer and a <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">2</sub> is a positive integer. A matrix in band form presented in this article involves the use of the Newton identities and symmetric polynomial identities. This matrix is the coefficient matrix of a linear system. The solution to such a linear system is the coefficients of an error-locator polynomial for quasi-reversible BCH codes. Its computational complexity is significantly lower than BCH decoding using the linear system with coefficient matrix in column echelon form. This article also proposes a new partial syndrome matrix with radical locators and a lot of zeros. Such a matrix is still in band form. The expansion of its matrix determinant is exactly a radical-locator polynomial. Compared to the former radical-locator polynomials in the literature, the newly discovered radical-locator polynomial not only requires less storage memory but also results in computational benefits. Surprisingly, the resulting polynomials are much sparser than those for the narrow-sense BCH codes. Finally, a complete algebraic decoding algorithm for quasi-reversible BCH codes is provided. The error-locator and radical-locator polynomials of degree less than or equal to 5 are listed.

Deferasirox‐associated Fanconi syndrome in adult patients with transfusional iron overload

Deferasirox is an oral chelator approved for iron overload, which has a potential side effect of renal Fanconi syndrome, with proximal tubular dysfunction and tubular acidosis. Monitoring of renal function is recommended, though no standard for monitoring exists. We aim to describe cases of deferasirox-associated Fanconi syndrome in adults and the renal monitoring required to detect these findings. We present a review of the literature and six cases from our institution of deferasirox-associated partial Fanconi syndrome in adult patients with transfusional iron overload secondary to β-thalassemia or Diamond Blackfan Anaemia. While prior cases in the literature occurred at high doses of deferasirox, our series included patients on doses as low as deferasirox 10mg/kg who had been aggressively chelated. All patients had resolution of laboratory abnormalities with drug interruption. Rather than chelating to normal iron levels, this series supports prior suggestions that deferasirox dose be reduced if ferritin <500-1000ng/ml, and also supports dose reduction if liver iron content <3mg iron per g dry weight or for those undergoing aggressive chelation with rapid decrease in iron. Monitoring with metabolic panel and urinalysis were sufficient to detect clinically significant proximal tubular dysfunction, but should be followed up with additional studies to confirm the diagnosis while deferasirox dose is decreased or held.

Oyster oligopeptide improving cyclophosphamide-induced partial androgen deficiency of the aging male by promotion of testosterone synthesis.

The aim of this study was to investigate the effect of oyster oligopeptide (OOP) at different doses on testosterone secretion and its regulating mechanism in partial androgen deficiency syndrome of aging male. The cyclophosphamide-induced partial androgen deficiency syndrome of the aging male rats were treated with a low, medium and high dose of OOP for 6 weeks. Cyclophosphamide could decrease levels of total testosterone and luteinizing hormone in serum, and testosterone and glutathione peroxidase in testis, and increase malondialdehyde, and downregulate the mRNA expression of steroidogenic acute regulatory protein, steroidogenic acute regulatory-related lipid transfer domain 7 and P450 cholesterol side chain cleavage enzyme in testis (P < 0.05). All these changes were reversed by OOP co-administration with different doses, although, OOP at a low dose did not increase serum testosterone, luteinizing hormone and testicular glutathione peroxidase levels. OOP treatment with different doses can effectively reduce oxidative stress in testicular tissue, promote the synthesis of testosterone and then prevent the formation of partial androgen deficiency syndrome of the aging male, with optimal effect at medium dose. Geriatr Gerontol Int 2021; 21: 268-275.

The symptom-syndrome analysis of multivariate categorical data based on Zhegalkin polynomials

In this article, we study the distribution, entropy and other informational properties of finite projective subspaces (syndromes) parameterized by impulse sequences with basic elements in the form of symptoms - polynomials over the field F2 which are known as Zhegalkin polynomials. It has been proven that the super syndrome, which is a linear syndrome with basic elements in the form of a multiplicative syndrome, is closed. If in the multiplication of two symptoms one is neutral, then we are talking about its majorization. The ordered by majorization symptoms form a majorized syndrome. Is proved that the majorized syndrome is closed and coincides with the super syndrome. The statements formulated in the first part of the paper are used to justify the convergence of the iterative procedure (PI), in which the most informative symptoms selected from partial super syndromes are again used in the next step. The stationary state of PI is obtained if all elements of the input set belong to either the same partial super syndrome or to the majorized syndrome. Thanks IP it is possible to quickly find the optimal syndrome from a large set of variables. An example from phthisiology shows how the specificity of classification can be improved using symptom analysis.

Atypical 9p- Partial Deletion Syndrome: First Case in Mozambique

Atypical 9p- Partial Deletion Syndrome: First Case in Mozambique

Chapter 22 - Cerebral aneurysms and cervical artery dissection: Neurological complications and genetic associations

Dissections and aneurysms are two of the more common nonatherosclerotic arteriopathies of the cerebrovascular system and a significant contributor to neurovascular complications, particularly in the young. Specifically, ruptured intracranial aneurysms (IA) account for nearly 500,000 cases of subarachnoid hemorrhage annually with a 30-day mortality approaching 40% and survivors suffering often permanent neurologic deficits and disability. Unruptured IAs require dedicated assessment of risk and often warrant serial radiologic monitoring. Cervical artery dissection, affecting the carotid and vertebral arteries, accounts for nearly 20% of strokes in young and middle-aged adults. While approximately 70% of cervical artery dissection (CeAD) cases present with stroke or TIA, additional neurologic complications include severe headache and neck pain, oculosympathetic defect (i.e., partial Horner's syndrome), acute vestibular syndrome, and rarely lower cranial nerve palsies. Both aneurysms and dissections of the cerebrovascular system may occur frequently in patients with syndromic connective tissue disorders; however, the majority of cases are spontaneously occurring or mildly heritable with both polygenic and environmental associations. Fibromuscular dysplasia, in particular, is commonly associated with both risk of CeAD and IA formation. Further research is needed to better understand the pathophysiology of both IA and CeAD to better understand risk, improve treatments, and prevent devastating neurologic complications.

A clinical case of partial androgen resistance syndrome (Reifenstein syndrome)

In the paper we describe a clinical case and provide integrated clinical and laboratory data of a patient with partial androgen resistance syndrome. A 25-year-old male was referred for medical evaluation for an infertile marriage. After a comprehensive assessment, he was diagnosed with hypergonadotropic hypogonadism, coronal hypospadia, left-sided varicocele, and oligoasthenoteratozoospermia. Cytogenetic analysis showed normal male karyotype (46,XY). Molecular genetic analysis identified the c.731_736delCGGTGT mutation in the exon 1 of the androgen receptor (AR) gene, what allowed for making a diagnosis of Reifenstein syndrome. In addition, we give a brief literature review of the clinical conditions associated with abnormal androgen sensitivity and discuss the problems of testing and counseling of patients with partial androgen resistance syndrome.

FETAL ALCOHOL SPECTRUM DISORDERS: LITERATURE DATA AND A CLINICAL CASE

According to statistical data, from 3 to 10% of women in many countries of the world abuse alcohol during pregnancy which results in the formation of fetal alcohol spectrum disorders (FASDs). The definition includes fetal alcohol syndrome (FAS); Partial Fetal Alcohol Syndrome (PFAS); Alcohol-related Neurodevelopmental Disorders (ARND) Alcohol-related Birth Defects (ARBD).&#x0D; According to the criteria of the Center for Disease Control and Prevention, (CDCP, USA) the major FASDs features are facial dysmorphology (smoothing of the nasolabial groove, flat upper lip, shortened eyelid openings); growth retardation (ante- or postnatal body weight or body length ≤ 10 percentiles); functional disorders of the nervous system (global cognitive deficiency, minor movement dysfunction, attention deficiency disorder and hyperactivity, sensor disorders, memory deficiency, social adaptation problems); structural disorders of the nervous system (head circumference ≤ 10 percentile (or ≤ 3 percentile for children with body weight ≤ 10 percentile) or clinically significant cerebral abnormalities found by neurovisualization). Combination of the above mentioned signs with maternal alcoholism during pregnancy in anamnesis underlies FASD diagnostics. &#x0D; According to the findings of certain researchers the major pathogenic links of FASDs are associated with ethanol toxic effect on the fetal metabolism, that is, activation of oxidative stress processes and decreased intensity of antioxidant protection; reduced expression of genes essential for development; activation of nerve cells apoptosis; delay of the cellular neuron migration and disorders of their proliferation against insufficiently active enzymatic system of the liver participating in ethanol neutralization.&#x0D; The article presents a clinical case of FASDs in a newborn girl born from ХІ pregnancy; a pregnant woman who was not registered concerning pregnancy, did not undergo screening examinations, smoked and drank regularly. The girl was born after Х physiological labor in 34 weeks of gestation after preterm rupture of the amniotic sac and anhydrous period of 160 hours. Complete antenatal prevention of respiratory distress-syndrome was performed.&#x0D; The body weight of the girl at birth was 1600 g, the body length – 43 cm. The child’s condition at birth was assessed as compensated by vital functions, and Apgar score was 8/8. According to the assessment of the nervous-muscular and physical maturation by the New Ballard Score the girl was estimated 25 corresponding to 33 weeks of gestation. Assessment of physical development found the body mass value lower than 10 centile, the body length and head circumference – within the range of 10-90 centile. During physical examination dysmorphic signs were determined including smoothed nasolabial groove (5 points), thin flat upper lip, and shortened eyelid openings. The course of postnatal adaptation of the neonate was complicated by neurological symptoms manifested by the signs of inhibition syndrome. After comprehensive medical aid was provided, the girl was discharged from hospital in a satisfactory condition with recommendations about the necessity of including the child into the catamnestic follow-up with careful assessment of its physical and nervous-psychic development. &#x0D; Diagnostics of FASDs is a complicated medical diagnostic process which is best ensured by means of a structural interdisciplinary approach of a strong clinical team consisting of specialists of various areas with mutually complementary experience, qualification and skills. An important role of a neonatologist in detection of children with FASDs is hardly overestimated concerning consistent provision of medical first aid and development of a professional diagnostic way, referral to catamnestic follow-up service and further rehabilitation.

Midline Suboccipital Subtonsillar Approach in Semisitting Position for Resection of Jugular Tubercle Meningioma: 2-Dimensional Operative Video.

We present a case of a large jugular tubercle meningioma that was removed through a midline suboccipital subtonsillar approach in semisitting position. The patient is a 49-year-old woman with chronic, medication-resistant cephalgias but devoid of any subjective focal neurological deficit. On magnetic resonance imaging (MRI), an extra-axial lesion, originating from the left jugular tubercle was discovered. There was significant obliteration of the peripontine cisternal space, and compression of the adjacent pontomedullary junction; the lesion also extended into the left jugular foramen.On physical exam, an absent gag reflex was noted on the left, as well as a moderate deviation of the uvula to the contralateral side (partial Vernet's syndrome).A gross-total resection was achieved, histopathology confirmed a World Health Organization (WHO) grade I angiomatous meningioma with a low-proliferation index. The patient was discharged home 4 days after surgery with intact function of the lower cranial nerves (CN) following immediate and complete resolution of the preexisting partial CNs IX and X deficits. At 2-year follow-up, there was no indication of intradural residual or recurrence.In summary, the midline suboccipital subtonsillar approach is a simple and effective tool with limited morbidity in the armamentarium for the microsurgical management of pathologies residing in the posterior cranial fossa or the craniocervical junction.Major limitations exist for lesions extending above the internal acoustic canal or those of fibrous consistence featuring widespread adhesion to the ventral brainstem or vascular encasement. Provided the necessary anesthesiological precautions and intraoperative procedures the semisitting position is safe and effective. The link to the video can be found at: https://youtu.be/bbVXagwhDCo .

Altered Resting-State Neural Oscillations and Spectral Power in Children with Fetal Alcohol Spectrum Disorder.

Consumption of alcohol during pregnancy impacts fetal development and may lead to a variety of physical, cognitive, and behavioral abnormalities in childhood collectively known as fetal alcohol spectrum disorder (FASD). The FASD spectrum includes children with fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS), and alcohol-related neurodevelopmental disorder (ARND). Children with a FASD or prenatal alcohol exposure (PAE) have impaired white matter, reduced structural volumes, impaired resting-state functional connectivity when measured with fMRI, and spectral hypersynchrony as infants. Magnetoencephalography (MEG) provides high temporal resolution and good spatial precision for examining spectral power and connectivity patterns unique from fMRI. The impact of PAE on MEG resting-state spectral power in children remains unknown. We collected 2minutes of eyes-open and eyes-closed resting-state data in 51 children (8 to 12years of age) with 3 subgroups included: 10 ARND/PAE, 15 FAS/pFAS, and 26 controls (TDC). MEG data were collected on the Elekta Neuromag system. The following spectral metrics were compared between subgroups: power, normalized power, half power, 95% power, and Shannon spectral entropy (SSE). MEG spectral data were correlated with behavioral measures. Our results indicate children with FAS/pFAS had reduced spectral power and normalized power, particularly within the alpha frequency band in sensor parietal and source superior parietal and lateral occipital regions, along with elevated half power, 95% power, and SSE. We also found select hemisphere specific effects further indicating reduced corpus callosum connectivity in children with a FASD. Interestingly, while the ARND/PAE subgroup had significant differences from the FAS/pFAS subgroup, in many cases spectral data were not significantly different from TDC. Our results were consistent with previous studies and provide new insight into resting-state oscillatory differences both between children with FAS and TDC, and within FASD subgroups. Further understanding of these resting-state variations and their impact on cognitive function may help provide early targets for intervention and enhance outcomes for individuals with a FASD.

Fetal alcohol spectrum disorders in adults

Fetal alcohol spectrum disorders (FASD) are acommon cause of acongenital developmental disability acquired in the womb due to alcohol consumption by the mother during pregnancy. The physical and mental consequences persist into adulthood. The 4‑digit code is an evidence-based method for diagnosing the full spectrum of outcomes, i.e. the full picture of fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS), alcohol-related neurodevelopmental disorder (ARND) and alcohol-related birth defects (ARBD). The four key diagnostic features are (1)growth disorder, (2)facial dysmorphia, (3)central nervous system (CNS) structural and functional abnormalities and (4)prenatal alcohol exposure. Even if the disorder cannot be cured, supportive therapeutic interventions can improve the quality of life and independence and psychiatric comorbidities can be treated.

Diagnosis of a fetus with a de novo 16q partial trisomy syndrome

To carry out prenatal diagnosis on a fetus with abnormal findings by ultrasonography and non-invasive prenatal testing. The fetus and both parents were subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis. The karyotypes of both parents were normal. The fetus carried a 46,N,der(X;16)(q28;q22) unbalanced translocation. SNP-array analysis confirmed that the derived chromosomal fragment of the fetus has originated from 16q. The fetus was diagnosed with 16q partial trisomy syndrome. Combined chromosomal karyotyping analysis and SNP-array can detect chromosomal aberrations at submicroscopic level and enable accurate diagnosis of the fetus.