Afflicted Families Research Articles

Living With Cancer: Child-Parent Dyads' Perspectives and Experiences From a Private Tertiary Care Hospital in Pakistan.

The life experiences of children with cancer and their parents as individuals have been well documented in literature. However, little is known about their experiences as child-parent dyads in Pakistan regarding these children's quality of life. Thus, the study was conducted in the context of the family-centric society of Pakistan. In-depth interviews were conducted with 28 participants (14 child-parent dyads), comprising 9 female and 5 male children receiving cancer treatment and 8 mothers and 6 fathers (primary caregivers). All the participants were Muslims and hailed from diverse ethnic backgrounds, and most belonged to middle socioeconomic backgrounds. Thematic analysis was performed using Braun and Clarke's (2006) framework, which revealed four themes: (1) Stress, Fears, and Optimism; (2) Reactions to Restrictions; (3) Adaptation and Coping; and (4) Support Structure and Mechanisms. The findings indicated that children's and parents' daily lives were affected in various ways during the children's cancer journey. They faced several challenges which impacted their well-being. Particularly, the children considered their symptoms as restrictions in the way of carrying out their routine lives. However, children and parents also elaborated on using different coping strategies, such as play, reminiscing the past, incorporating religious practices into their daily routines, and keeping a family-centred approach towards the child's care. The parents also recommended that cancer-specialised services and support groups should be accessible. Conclusively, these findings are useful for healthcare providers in giving family-centred care to afflicted families and devising innovative interventions that address the needs of children with cancer and improve their quality of life.

Molecular Analysis of OCA1 and OCA2 Genes in Sindhi Inbred Families

Purpose: The purpose of this study was to identify the common mutations of (Oculocutaneous albinism) OCA1 and OCA2 genes in Sindhi Inbred Families. Study Design: Descriptive cross-sectional study. Place and Duration of Study: Liaquat University of Medical and Health Sciences (LUMHS), Jamshoro, Pakistan, from October, 2020 to September, 2022. Methods: Forty-four patients of eight families with clinically diagnosed OCA and Ocular albinism (OA) with or without family history were recruited for this study and all affected individuals other than OCA were excluded from the study. A single missense substitution was identified in the OCA1 and OCA2 using PolyPhen 2, Mutation Taster and I-Mutant software. Results: Out of 8 randomly chosen OCA afflicted families, there were two carriers and two affected individuals identified in family III. In exon 4 of the OCA1 gene, a common mutation (homozygous) c.1255 G>A (p.Gly419Arg) was identified. In three-generation pedigree for the albinism family VII was identified, including two affected, one carrier, and two normal people. Participants in this family who carried the 1045-15 T>G mutation in the OCA2 gene were affected. Conclusion: Albinism affected individuals in Pakistan have varying phenotypic and genetic presentations. This is due to the fact that the population of Pakistan and those of Sindhi ancestry are heavily inbred, consanguineous, segregated, and afflicted by hereditary diseases.

Measles Outbreak in Socioeconomically Diverse Sections: A Review.

Measles outbreaks among socioeconomically weaker sections constitute a significant public health challenge.The objective is to highlight the specific vulnerabilities and contributing factors that make these communities more susceptible to measles outbreaks. Socioeconomically weaker sections, often characterized by poverty, inadequate healthcare access, overcrowding, and suboptimal immunization rates, face heightened risks of measles outbreaks. These outbreaks occur due to various interrelated factors, including limited healthcare infrastructure, low vaccine coverage, a lack of awareness about vaccination benefits, and difficulties in accessing healthcare services. The effects of measles outbreaks in socioeconomically disadvantaged areas are critical. Particularly among vulnerable groups, including newborns, expectant mothers, and malnourished people, measles increases morbidity and mortality. There is also a considerable financial impact on the healthcare system and the afflicted families. Measles outbreaks in these populations must be addressed using a diversified strategy. In order to improve vaccine coverage through targeted immunization programs, raise community vaccination awareness, and address social determinants of health, efforts should concentrate on bolstering the healthcare infrastructure. Effective epidemic control and prevention depend on coordinated efforts by healthcare practitioners, legislators, local leaders, and public health groups. Healthcare systems can lessen the impact of measles in socioeconomically disadvantaged areas and strive toward attaining equitable health outcomes for all populations by addressing the socioeconomic variables that lead to the vulnerability of measles.

ASSESSMENT OF THE HUMANITARIAN NEEDS OF CONFLICT-AFFECTED FAMILIES INSIDE AND OUTSIDE THE CAMPS A FIELD STUDY

The research indicates an important humanitarian issue that was raised in an attempt to assess the humanitarian needs of the displaced families. With the government's move to focus on rehabilitation and recovery, humanitarian needs remain. Within the framework of the response plan to the most prominent of these challenges posed by the ISIS crisis, and the enforced disappearance of some members of those families, and its impact on these families, at first glance, those families were subjected to direct violence, represented by the practices of forcibly abusing women by the terrorist groups represented by ISIS, thus spreading terror and trauma in the hearts Families, in addition to the focus of this segment of families in the scope of political activity, as it has become a political card more than it should be a humanitarian and social card, and at second glance is their falling victim to cultural violence, which was formed in the form of (social stigma), as those families were stigmatized as (the absent). Those who have become one of the weakest segments of society in terms of interaction and status, as a result of the absence of the head or breadwinner of the family, and according to this, the circle of treason and suspicion has become hovering around them as they are suspected of having one of their members join the terrorist organization ISIS. In addition to the state of poverty and material destitution, which afflicted families, especially since they depend on practicing simple agricultural work, the loss of the head of the family or one of its members led to the weakness of human capabilities, and this is what generated a complex problem, which is (women and children labour, begging, school dropouts and health neglect) The research included a sample whose total number was (505) displaced males and females, 362 of whom were females and 143 males. From (7) governorates, they are Dohuk, Nineveh, Erbil, Anbar, Baghdad, Salah al-Din, and Maysan

Household Characteristics, Cost of Illness and Coping Mechanism of Families of Hospitalized Acute Encephalitis Syndrome Children: A Mix Method Study

Background: AES is responsible for causing high social and economic burden to the affected families. The study was conducted to know the household characteristics, cost of illness and coping strategy adopted by the family members of AES children admitted to a tertiary care facility in Assam, India. Methods: It was a sequential exploratory mixed method study, with a cross-sectional survey among AES children and their guardians, followed by In Depth interview. Results: Out of 51 cases 55% were male. The median age was 11 years. 53% of the families belonged to lower socioeconomic class. 96% of families reported to reside in rural areas. Commonly reported household assets were mobile phone 94%, bicycle 86%, television 31% and motorcycle 29%. Three major themes were emerged to contribute towards economic burden. The first major theme is “Direct cost” due to patient transportation cost (mean Rs 1161.00) and hospital costs: mostly due to medicinal cost (mean Rs1955.00), investigational cost (mean Rs 2920.00) and food cost (mean Rs 8375.00). The second theme “Indirect cost” is due to work days loss: 100% care providers had missed work days during hospital stay of their children and 84% had missed work days during post hospital care. The third theme is “Inherent cost spotted through coping mechanisms” which mostly 94% included borrowing money from the market and 31.4% selling household assets. Conclusion: Cost of illness is a huge burden to the AES afflicted families which demands reforms in health care financing and reimbursement in current context.

Quantitative longitudinal natural history of 8 gangliosidoses—conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis

Gangliosidoses are a group of inherited neurogenetic autosomal recessive lysosomal storage disorders usually presenting with progressive macrocephaly, developmental delay, and regression, leading to significant morbidity and premature death. A quantitative definition of the natural history would support and enable clinical development of specific therapies. Single disease registry of 8 gangliosidoses (NCT04624789). Cross-sectional analysis of baseline data in N= 26 patients. Primary end point: disease severity assessed by the 8-in-1 score. Secondary end points: first neurologic sign or symptom observed (1) by parents and (2) by physicians, diagnostic delay, as well as phenotypical characterization. Tertiary end points: neurologic outcomes (development, ataxia, dexterity) and disability. The 8-in-1 score quantitatively captured severity of disease. Parents recognized initial manifestations (startle reactions) earlier than physicians (motor developmental delay and hypotonia). Median diagnostic delay was 3.16 (interquartile range 0.69-6.25) years. In total, 8 patients presented with late-infantile phenotypes. Data in this registry raise awareness of these rare and fatal conditions to accelerate diagnosis, inform counseling of afflicted families, define quantitative end points for clinical trials, and can serve as historical controls for future therapeutic studies. We provide further insight into the rare late-infantile phenotype for GM2-gangliosidosis. Longitudinal follow up is planned.

Nanoparticles in Combating Neuronal Dysregulated Signaling Pathways: Recent Approaches to the Nanoformulations of Phytochemicals and Synthetic Drugs Against Neurodegenerative Diseases.

As the worldwide average life expectancy has grown, the prevalence of age-related neurodegenerative diseases (NDDs) has risen dramatically. A progressive loss of neuronal function characterizes NDDs, usually followed by neuronal death. Inflammation, apoptosis, oxidative stress, and protein misfolding are critical dysregulated signaling pathways that mainly orchestrate neuronal damage from a mechanistic point. Furthermore, in afflicted families with genetic anomalies, mutations and multiplications of α-synuclein and amyloid-related genes produce some kinds of NDDs. Overproduction of such proteins, and their excessive aggregation, have been proven in various models of neuronal malfunction and death. In this line, providing multi-target therapies carried by novel delivery systems would pave the road to control NDDs through simultaneous modulation of such dysregulated pathways. Phytochemicals are multi-target therapeutic agents, which employ several mechanisms towards neuroprotection. Besides, the blood–brain barrier (BBB) is a critical issue in managing NDDs since it inhibits the accessibility of drugs to the brain in sufficient concentration. Besides, discovering novel delivery systems is vital to improving the efficacy, bioavailability, and pharmacokinetic of therapeutic agents. Such novel formulations are also employed to improve the drug’s biodistribution, allow for the co-delivery of several medicines, and offer targeted intracellular delivery against NDDs. The present review proposes nanoformulations of phytochemicals and synthetic agents to combat NDDs by modulating neuroinflammation, neuroapoptosis, neuronal oxidative stress pathways and protein misfolding.

Families With Children With Neurodevelopmental Disorders During COVID-19: A Scoping Review.

ObjectiveProlonged home isolation may lead to long-term negative consequences for both children and caregivers’ psychological wellbeing, especially in families with children with neurodevelopmental disorders. Therefore, a scoping review was conducted to identify challenges faced by caregivers of children with neurodevelopmental disorders during the coronavirus disease 2019 (COVID-19) pandemic and to consolidate parenting interventions and guidelines.MethodsA systematic search was conducted on Embase, PsycInfo, PubMed, Scopus, and LitCovid. All article types published between December 2019 and November 2020 which reported on intervention guidelines and experiences of families with children with neurodevelopmental disorders during the COVID-19 pandemic were included. Qualitative themes, quantitative data, and article summaries were charted, and a thematic analysis was conducted.ResultsTwenty-nine articles were included in the review. Three themes were generated: (a) behavioral issues and health concerns, (b) disruptions of lifelines and daily routines, and (c) existing programs, models, and guidelines to support families. Additionally, a list of caregiver strategies such as scheduling regular online consultations, maintaining online therapy, educating a child on COVID-19, and preventive behaviors, creating a structured daily schedule and reinforcement system, and selecting child-appropriate activities was consolidated.ConclusionThis review revealed a lack of evidence-based studies and articles on children with other neurodevelopmental disorders apart from autism and attention-deficit hyperactivity disorder. It also places emphasis on the importance of telehealth services as major lifelines to parents during this pandemic and urges healthcare organizations to provide funding to increase telehealth services to afflicted families.

Quantitative retrospective natural history modeling for orphan drug development.

The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Consortium in 2017, the purpose of this paper is to review the recently developed method of quantitative retrospective natural history modeling (QUARNAM) and to illustrate its usefulness through didactically selected analyses examples in an overall population of 849 patients worldwide with seven (ultra-) rare neurogenetic disorders. A quantitative understanding of the natural history of the disease is fundamental for the development of specific interventions and counseling afflicted families. QUARNAM has a similar relationship to a published case study as a meta-analysis has to an individual published study. QUARNAM relies on sophisticated statistical analyses of published case reports focusing on four research questions: How long does it take to make the diagnosis? How long do patients live? Which factors predict disease severity (eg, genotypes, signs/symptoms, biomarkers)? Where can patients be recruited for studies? Useful statistical techniques include Kaplan-Meier estimates, cluster analysis, regression techniques, binary decisions trees, word clouds, and geographic mapping. In comparison to other natural history study methods (prospective studies or retrospective studies such as chart reviews), QUARNAM can provide fast information on hard clinical endpoints (ie, survival, diagnostic delay) with a lower effort. The choice of method for a particular drug development program may be driven by the research question and may encompass combinatory approaches.

Problematic Internet use and the risk of suicide ideation in Chinese adolescents: A cross-sectional analysis

To evaluate the relationships between problematic Internet use (PIU) and suicidal ideation (SI) among adolescents, we encompassed 12,507 participants (16.6 ± 0.8 years). The occurrence of mood disorders, quality of life (QOL), personality traits and SI were compared in adolescents with and without PIU. Multilevel logistic regression models, trend analysis and interaction analysis were employed. A total of 2,809 (22.46%) adolescents reported SI. PIU was assessed using Internet Addiction Test score (IATs), and 3,442 (27.52%) participants met the criteria for PIU (IATs ≥ 40). PIU was significantly and independently associated with SI [AOR for suicidal ideation (vs. IATs < 40): 1.00 for 40–59 points; 1.3 (CI, 1.2–1.5): 60–79 points; 1.7 (CI, 1.4–2.1): 80–100 points; and 2.2 (CI, 1.2–3.9)]. Trend analysis demonstrated that PIU increased the risk of SI in each of the subgroups (p for trend ≤ 0.001 for each). Interaction analysis showed an association of PIU and SI that were dependent on mood disorders, QOL, impulsivity and aggression (p-value for interaction < 0.05). These findings highlight the need for a range of cross disciplinary health interventions to afflicted families, students, and clinicians, to increase the awareness of adverse PIU effects.

Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies.

Despite genetics being accepted as the primary cause of familial aggregation for most diseases, it is still unclear whether afflicted families are likely to share a single highly penetrant rare variant, many minimally penetrant common variants, or a combination of the two types of variants. We therefore use recent estimates of SNP heritability and the liability threshold model to estimate the proportion of afflicted families likely to carry a rare, causal variant. We then show that Polygenic Risk Scores (PRS) may be useful for identifying families likely to carry such a rare variant and therefore for prioritizing families to include in sequencing studies with that aim. Specifically, we introduce a new statistic that estimates the proportion of individuals carrying causal rare variants based on the family structure, disease pattern, and PRS of genotyped individuals. Finally, we consider data from the MelaNostrum consortium and show that, despite an estimated PRS heritability of only 0.05 for melanoma, families carrying putative causal variants had a statistically significantly lower PRS, supporting the idea that PRS prioritization may be a useful future tool. However, it will be important to evaluate whether the presence of rare mendelian variants are generally associated with the proposed test statistic or lower PRS in future and larger studies.

A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome

The present study describes two patients with clinical diagnosis of ID, from a consanguineous family in Israel. Whole exome sequencing identified a homozygous missense mutation in the ADAT3 gene. The clinical features of our patients were compared with several cases described in two recently published studies that documented clinical manifestation of this same mutation. Both affected siblings in our study expressed the previously described clinical features such as intellectual disability, strabismus, FTT/underweight, microcephaly and hypotonia. Interestingly, our patients suffered from additional clinical manifestations that were not detailed in the previous two studies, such as: gait difficulties, instability, teeth abnormalities, neuropathy and contractures of the hand wrist and fingers. We conclude that the ADAT3 gene mutation is responsible for ADAT3-related ID syndrome, which induces the variety clinical manifestations exhibited by our patients. Further studies aimed at identifying and characterizing additional afflicted families worldwide will be required to obtain a more comprehensive understanding of this syndrome.

The first successful application of preimplantation genetic diagnosis for hearing loss in Iran

Hearing impairment (HI) caused by mutations in the connexin-26 gene (GJB2) accounts for the majority of cases with inherited, nonsyndromic sensorineural hearing loss. Due to the illegality of the abortion of deaf fetuses in Islamic countries, preimplantation genetic diagnosis (PGD) is a possible solution for afflicted families to have a healthy offspring. This study describes the first use of PGD for GJB2 associated non-syndromic deafness in Iran. GJB2 donor splicing site IVS1+1G&gt;A mutation analysis was performed using Sanger sequencing for a total of 71 Iranian families with at least 1 deaf child diagnosed with non-syndromic deafness. In Vitro Fertilization (IVF) was performed, followed by PGD for a cousin couple with a 50% chance of having an affected child. Bi-allelic pathogenic mutations were found in a total of 12 families (~17 %); of which a couple was a PGD volunteer. The deaf woman in this family was homozygous and her husband was a carrier of the IVS1+1G&gt;A gene mutation. Among 8 biopsied embryos, two healthy embryos were implanted which resulted in a single pregnancy and subsequent birth of a healthy baby boy. This is the first report of a successful application of PGD for hearing loss in Iran. Having a baby with a severe hearing impairment often imposes families with long-term disease burden and heavy therapy costs. Today PGD has provided an opportunity for high-risk individuals to avoid the birth of a deaf child.

Behavioural Response to a Sudden Health Risk: Dengue and Educational Outcomes in Colombia

Epidemics tend to have a debilitating influence on the lives of directly afflicted families. However, the presence of an epidemic can also change the behaviour and outcomes of those not directly affected. This paper makes use of a short, sharp, unexpected epidemic to examine the behavioural response of the public to a sudden shift in the perceived risk to one’s health and mortality. Our analysis finds that unafflicted school students change their behaviour substantially, affecting important life outcomes. In particular, we find that between 1.9 and 4.7 fewer students, out of a typical cohort of 47 pupils, sit their school leaving examination for every additional 10 cases of severe Dengue per 10 000 inhabitants in a municipality. We rule out several possible mechanisms, leaving an increase in the salience of the disease’s risks as a plausible explanation for our findings.

Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis.

BackgroundEpilepsy is a serious chronic health condition with a high morbidity impairing the life of patients and afflicted families. Many epileptic conditions, especially those affecting children, are rare disorders generating an urgent medical need for more efficacious therapy options. Therefore, we assessed the output of the US and European orphan drug legislations.MethodsQuantitative analysis of the FDA and EMA databases for orphan drug designations according to STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) criteria.ResultsWithin the US Orphan Drug Act 40 designations were granted delivering nine approvals, i.e. clobazam, diazepam viscous solution for rectal administration, felbamate, fosphenytoin, lamotrigine, repository corticotropin, rufinamide, topiramate, and vigabatrin. Since 2000 the EMA granted six orphan drug designations whereof two compounds were approved, i.e. rufinamide and stiripentol. In the US, two orphan drug designations were withdrawn. Orphan drugs were approved for conditions including Lennox-Gastaut syndrome, infantile spasms, Dravet syndrome, and status epilepticus. Comparing time to approval for rufinamide, which was approved in the US and the EU to treat rare seizure conditions, the process seems faster in the EU (2.2 years) than in the US (4.3 years).ConclusionOrphan drug development in the US and in the EU delivered only few molecular entities to treat rare seizure disorders. The development programs focused on already approved antiepileptic drugs or alternative pharmaceutical formulations. Most orphan drugs approved in the US are not approved in the EU to treat rare seizures although some were introduced after 2000 when the EU adopted the Orphan Drug Regulation.

Cerebellar liponeurocytoma in two siblings suggests a possible familial predisposition

There is limited data on the genetic origin and natural history of cerebellar liponeurocytoma. To the best of our knowledge there has been only one report of a familial presentation of this rare entity. We report a 72-year-old female with a posterior fossa tumor presenting with progressive cerebellar signs and symptoms. The patient underwent total tumor resection via an uncomplicated sub-occipital craniotomy. Histopathologic examination was diagnostic for cerebellar liponeurocytoma. Her sister was previously treated for a similar tumor. Our report provides further evidence for the possible existence of a hereditary abnormality predisposing afflicted families to cerebellar liponeurocytoma development.

Children as Next of Kin: A Scoping Review of Support Interventions for Children Who have a Parent with a Serious Physical Illness

ABSTRACTYoung children and adolescents who have a parent with a serious physical illness require information and support to cope with their everyday lives. The purpose of this scoping review was to summarise and disseminate the research findings of interventions that support children in families with a serious physically ill parent. The review also aimed to identify research gaps in the existing literature. Following a comprehensive search, only nine support interventions from 12 studies were identified, indicating that a dearth of intervention research has been conducted in the area. Although positive results were reported from all interventions at some stage, many of the studies were small pilot studies that did not show robust proof of the effectiveness of the interventions. However, the scoping review revealed that the main aim of most interventions is to enhance family functioning for all afflicted families by helping parents to communicate with their children. Further, some interventions offer a comprehensive support for identified “at risk” families. Few interventions examined the improvement within the everyday lives of families facing a serious physical illness other than cancer or HIV. The measures of effectiveness for children were limited to internal psychological symptoms of stress and depression, behavioural problems and issues regarding communication within the family. Few studies evaluated external measures; for example, effects on children's care burden, improved support from social network or school achievements. Implications for practitioners include gaining inspiration from the programmes to enhance communication between parents and children and also, wherever possible, to ask children themselves to evaluate the effectiveness of the support offered to them.

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Special issue on pediatric acute-onset neuropsychiatric syndrome.

We are thrilled to introduce this special issue of JCAP on pediatric acute-onset neuropsychiatric syndrome (PANS) in youth. This is the first time a collection of articles concerning PANS and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) has been published, and hopefully represents the first group of many more data-driven studies to come regarding youth with these conditions. PANDAS was first described by Dr. Susan Swedo's group at the National Institutes of Health in the late 1990s (Swedo et al., 1999). Since initial controversy regarding the appropriateness of this diagnosis versus “regular” obsessive compulsive disorder (OCD) or tic disorders, the field has undergone much change. Biological, phenomenological, and treatment studies in youth with PANDAS have provided evidence of biological models and unique medical treatments for these patients. However, it became clear to PANDAS researchers that children without documented streptococcal infection were still subject to an array of acute-onset neuropsychiatric symptoms, including OCD, eating restriction, tics, depression, mania, cognitive impairment, urinary urgency, sleep disturbance, and hallucinations. Thus, the term PANS was coined in 2012 to address the wider group of children who may have underlying etiologies separate from documented streptococcal infection (Swedo et al., 2012). As this is a more recent expansion of the concept of PANDAS, there are few studies yet conducted in these youth. This special issue represents a major movement forward in this field, collecting reports detailing clinical presentations of youth with PANS, open and controlled treatment data, and the first consensus conference recommendations regarding clinical evaluation of these affected youth. The clinical presentation of PANS has vexed clinicians, as it overlaps with many other disorders. There are several articles here that discuss this issue, including a case series highlighting various etiologies and rheumatologic symptoms (Frankovich et al. 2015b), detailed descriptions of findings from clinic patients (Frankovich et al. 2015a; Murphy et al. 2015b), presentations of food restriction (Toufexis et al. 2015), and presentations in the community (Swedo et al. 2015). These reports should aid the clinician in recognizing the various presentations of youth with PANS. A detailed consensus statement is provided from experts who actively treat PANS patients and conduct research, in order to aid clinicians in evaluating these youth and/or knowing when to refer to specialists. Biological findings regarding antineural antibodies and cytokine levels in these children are delineated in Cox et al. (2015) and Parker-Athill et al. (2015). Finally, as treatment trials in this population are few, included here are chart reviews of response to IVIG (Kovacevic, grant, and swedo, 2015) and plasmapheresis (Latimer et al. 2015), and a placebo controlled study of cefdinir in a related population (Murphy et al. 2015a). Together, these articles represent the initial push in a coordinated effort to systematically study PANS and disseminate findings regarding recognition, evaluation, etiology, and treatment. When “new” disorders are recognized in the population, afflicted families often look to resources on the web or in the lay press, or word of mouth for assistance, as there is usually little established evidence-based guidance. It is hoped that these articles will help provide additional empirical data to what is already known about PANS to allay confusion in the community and spur larger, well-controlled—and thus well-funded—studies in youth with the syndrome. The link between inflammation and psychiatric disorders is slowly becoming stronger, and understanding PANS may help us understand not just how to better diagnose and treat youth with this syndrome, but other youth with developmental neuropsychiatric syndromes and potentially the pathogenesis of psychiatric disorders as a whole.

Diastematomyelia - a report of two cases.

Diastematomyelia means sagittal division of the spinal cord into two hemi cords. It is a congenital malformation which results from an abnormal adhesion between ectoderm and endoderm. It is more common in females (3:1). This abnormal adhesion which splits the cord may be in the form of fibrous tissue or purely a calcific bar or purely an ossific bar or even a combination of the earlier mentioned entities. The health impacts of this entity are enormous, as the patients may be asymptomatic to begin with, until gradually; progressive spinal cord dysfunction sets in. Imaging plays a vital role in establishing the diagnosis and it may aid in easing the quality of life by making an early diagnosis. The affected individual and the afflicted families need psycho-social guidance and counselling. We are presenting here, imaging findings in two cases of diastematomyelia.