Maternal Uncle Research Articles

The Limits of Reconciliation: Achilles, Cyrus, and the Secret of Tact

Abstract This paper examines the tension between Cyrus and Cyaxares in Xenophon’s Cyropaedia, and the ways in which Cyrus succeeds in mollifying the Median king (and his maternal uncle), who is angry because Cyrus has usurped his authority. It argues that, although Cyrus has been charged with deceit in his effort to conciliate Cyaxares, in fact such dissembling is ineliminable where there is a genuine offense to another’s honor. It suggests further that the episode is a deliberate rejoinder to the conflict between Achilles and Agamemnon, as described in the Iliad, and is intended to show how properly to resolve a clash between a king and his more warlike subordinate.

Indigenous Australian Perspectives on the Perinatal Period: Social Well-Being, Culture and Early Infant Attachments

ObjectiveAlthough social factors and culture are significant determinants of health in Aboriginal and Torres Strait Islander peoples, little is known academically about key interpersonal and social experiences of this population during the perinatal period, or how early attachments are formed through culture. This study addressed this gap in the literature. Methods and MeasuresA reflexive thematic analysis approach was applied to the data gathered from focus groups (N = 14) held with Aboriginal (N = 7) and Torres Strait Islander (N = 7) mothers and their kinship systems. ResultsFive prominent interpersonal and social themes were identified: maternal-fetal attachment, infant-kinship attachment, caretaking roles/shared caregiving, traditional adoption, and ceremonies and rites of passage. Characteristics of maternal-fetal attachment were aligned with the construct in non-Indigenous literature. Post-utero, caretaking/shared caregiving roles such as ‘big mum/dad’ and ‘small mum/dad’ were identified. Ceremonies and rites of passage were understood to cement cultural roles within the kinship system, and the role of the maternal uncle was highlighted. A cultural obligation to help raise the child for biological mothers’ other siblings, known as ‘mums’ and ‘dads’, was identified. ConclusionDiscussion is centred around the necessity for ‘grass roots’ research from the perspectives of Aboriginal and Torres Strait Islanders, and on suggestions for future research in further exploring the themes derived from this research.

A case report on genetic variants in CHD8, KMT2C, EP300, and TCF4 associated with autism spectrum disorder

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition influenced by several environmental and genetic factors. We present a case of a 7-year-old male with ASD, neurogenic voiding dysfunction (NVD), speech and developmental delays, and hyperactivity, and current treatment includes speech, occupational, and behavioral therapy. Family history includes consanguinity and maternal intellectual disability. Whole-exome sequencing (WES) identified maternally inherited variants in CHD8 (benign), KMT2C (likely pathogenic), and EP300 and TCF4 (uncertain significance). Despite the benign classification of the CHD8 variant, its association with ASD highlights the complexity of genotype-phenotype correlations. The likely pathogenic KMT2C frameshift mutation and deletions in EP300 and TCF4 suggest a multifactorial genetic basis for ASD in this patient. These findings highlight the importance of integrating clinical and genetic data for accurate diagnosis and personalized treatment. Whole Exome Sequencing (WES) analysis revealed these variants in the child's mother, uncle, and maternal grandfather, with the maternal uncle unaffected by ASD, ID, or ADHD, indicating potential variant interplay in disease manifestation. This case emphasizes the need for further research to elucidate the combined effects of these variants, enhancing our understanding of ASD's genetic landscape and improving clinical outcomes.

SLC4A3 anion exchanger mutations associated to sudden death : short or long QT syndrome?

Abstract Introduction SLC4A3 gene codes for an (Cl-/HCO3-) exchanger present on the surface of cardiomyocytes (AE3 channel) is involved in maintaining the physiological acid-base gradient of the cardiomyocyte at rest. Loss of function of the SLC4A3 gene leading to an increase in intracellular pH has. been reported to be responsible for short QT syndrome (SQT). Methods The aim of our study was to characterize the genotype-phenotype relationships of SLC4A3 mutations identified in the French databases (Paris, Nantes and Lyon) in patients with sudden death. Through systematic exome sequencing we identified 3 new SLC4A3 variants in 3 families with a history of sudden death in two universitary hospitals. Results Family 1. The c.3209G>C variant (p.Gly1070Ala) in the SLC4A3 gene was identified in a 7-yo boy with VF at sleep but admitted in encephalic death. EKG showed short QT (QTc 280ms). Clinical examination, blood tests, TTE and autopsy were normal. There was no family history of sudden death. His mother had EKG evidence of SQT and was carrier the SLC4A3 mutation. She was implanted with an ICD. His two older brothers and the rest of the family had no mutation or pathological ECG and were asymptomatic. Family 2. The c.1027C>T (p.Arg343Cys) mutation in the SLC4A3 gene was identified in a 29-year-old man who presented with sudden death at sleep (VF). Clinical examination, blood tests, TTE and autopsy were normal. A maternal uncle died suddenly while sleeping. His two brothers (30 and 27 yo) are both carriers of the SLC4A3 mutation and exhibit SQT (QTc 320 and 330 ms respectively). TEE, Holter monitoring and stress test were normal in both. Both brothers were treated with hydroquinidine. Over a 2-year follow-up they had no symptom nor AF. Family 3. The c.1022C>G (p.Thr341Arg) mutation was identified in the SLC4A3 gene in a 54-yoman who presented with VF during shower but admitted in encephalic death. There was no family history of sudden death. Clinical examination, blood tests and echocardiography as well as coronary angiogram were normal. The initial ECG showed a prolonged QT interval (QTc 520 ms). QTc decreased to 480 ms in the 48 following hours. His parents and his sister as well as his 18 yo daughter have normal QTc values. We are awaiting the genetic results. Conclusion Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 has been recently reported to cause short QT syndrome but it seems that in rare cases it may also be responsible for LQTS. Further patients are needed to confirm these data. In order to understand the underlying electrophysiological mechanisms, we plan to characterize the cellular impact of these new mutations through IPS.

Inheritance, Identity, and Power: The Role of Women and Maternal Uncle in Khasi Matrilineal Lineage System

Inheritance, Identity, and Power: The Role of Women and Maternal Uncle in Khasi Matrilineal Lineage System

Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant

BackgroundAndrogen insensitivity syndrome (AIS) is a rare genetic disorder characterized by resistance to androgens, mainly due to mutations in the androgen receptor (AR) gene. It can manifest as complete AIS, partial AIS and mild AIS. While there have been studies linking specific AR gene mutations to AIS phenotypes, different clinical AIS phenotypes are also reported in patients with the same AR gene mutation. So far, the precise correlations between phenotypes and genotypes remain incompletely understood.MethodsWe conducted a thorough investigation involving four patients diagnosed with different types of AIS from a single Chinese family. Clinical manifestations, laboratory examinations, and fertility outcomes were well-documented. Furthermore, we performed genetic sequencing to detect possible pathogenetic variants.ResultsWhole exome sequencing identified a hemizygous missense variant (c.2263T > C; p.Phe755Leu) of AR gene in all four affected patients with different degrees of undermasculinisation and heterogeneous spermatogenesis. The proband, diagnosed with partial AIS, opted for treatment with donated sperm due to non-obstructive azoospermia, while their older sibling, diagnosed with complete AIS, was raised as a girl. His two maternal uncles were both diagnosed with mild AIS, the older uncle fathered two girls naturally, whereas the younger uncle utilized assisted reproductive technology to conceive a boy because of severe oligoasthenozoospermia.ConclusionOur study first identified the same AR variant (c.2263T > C;p.Phe755Leu) in four affected patients displaying highly diverse phenotypes of AIS and fertility outcomes, thereby significantly expanding the phenotypic spectrum of AIS. Notably, we presented a clear insight into different fertility outcomes of AIS patients with identical AR (c.2263T > C;p.Phe755Leu) variant, which provided reliable evidence that males harboring this variant may obtain biological offspring naturally or in combination with assisted reproductive technology. Furthermore, our study underscored the potential role of androgen concentration in shaping the phenotypic diversity of AIS, warranting further investigation.

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.

Pathogenic heterozygous variants in CACNA1A are associated with familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6, and more recently, neurodevelopmental disorders. We describe a severe, early-onset phenotype including severe muscular hypotonia, early-onset epileptic seizures, apnoea, optic atrophy and dysphagia in three siblings carrying compound heterozygous frameshift variants in CACNA1A. Two male patients died at the age of 5 or 14 months of suspected SIDS or severe developmental epileptic encephalopathy (DEE) with refractory seizures and apnoea. A male child (index patient) developed severe early-onset DEE including seizures and ictal apnoea at the age of 4 weeks. Another male child developed generalized epilepsy and mild intellectual impairment in late infancy, and his mother and his maternal uncle were identified as carriers of a known CACNA1A pathogenic variant [c.2602delG heterozygous, p. (Ala868Profs*24)] with a diagnosis of episodic ataxia type 2. This maternal pathogenic variant c.2602delG was detected in the index patient and child 2. Trio-Exome sequencing identified an additional heterozygous pathogenic variant in the CACNA1A gene, c.5476delC, p.(His1826Thrfs*30) in the index patient and child 2, which was inherited from the asymptomatic father. In conclusion, the novel compound heterozygosity for two frameshift pathogenic variants, maternally [c.2602delG, p.(Ala868Profs*24)] and paternally [c.5476delC, p.(His1826Thrfs*3)] is associated with a severe phenotype of early-onset DEE. This observation highlights the necessity of additional analyses to clarify unusual phenotypes even if a pathogenic variant has already been identified, and expands the clinical spectrum of CACNA1A-related disorders.

Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members

BackgroundTuberous sclerosis complex (TSC) is a multisystemic disorder caused by inactivating variants in the mTOR pathway inhibitor genes TSC1 and TSC2. Individuals with TSC are predisposed to benign tumors in multiple organs as well as TSC-associated neuropsychiatric disorders (TAND) and epilepsy. Pathogenic variants in TSC2 are typically associated with a more severe phenotype compared with TSC1; the TSC2 R905Q variant has been shown to be an exception, where patients have been reported to present with unusually mild TSC features that may be undetected. MethodsWe studied the TSC phenotype of a 13-year-old individual and three family members with a TSC2 c.2714G>A (R905Q) pathogenic variant. ResultsPatient 1 presented with severe medically refractory epilepsy without tubers or subependymal nodules and only mild dermatologic features of TSC missed on virtual examinations. Her mother and maternal aunt (Patients 2 and 3–diagnosed after age 50 years) presented with a mild phenotype, with dermatologic features and TAND. Her maternal uncle (Patient 4–diagnosed at age 47 years) displayed the most severe phenotype, presenting with intellectual disability, medically refractory epilepsy, obsessive-compulsive disorder, post-traumatic stress disorder, and psychosis. ConclusionsThis study expands the possible phenotypic spectrum of TSC2 R905Q variant, demonstrating an association with severe epilepsy without associated neuroradiological stigmata. This presentation highlights the possibility of occult focal cortical dysplasia in TSC and emphasizes the importance of genetic testing in individuals with severe epilepsy. Moreover, a late adult diagnosis was subsequently made in other family members allowing for appropriate TSC surveillance to occur.

A Rare Case of Late Onset-Pompe’s Disease: Presented as Heart Failure

Pompe disease is a hereditary lysosomal storage disorder characterized by a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in muscle and neurons. Clinical manifestations vary from severe infantile-onset with hypertrophic cardiomyopathy and early mortality due to respiratory insufficiency to late-onset with proximal muscle weakness, gross motor delay, and progressive respiratory insufficiency. A case of an 11-year-old boy who reported to the pediatric emergency department with a nine-year history of progressive muscle weakness and a one-month history of anemia symptoms (easy fatigue, shortness of breath, pale appearance) and heart failure (orthopnea, dyspnea). His family history included consanguineous marriages and similar conditions in his brother and maternal uncle. On examination, he appeared pale, malnourished, and exhibited signs of respiratory distress and tachypnea. His cardiovascular examination revealed apex beat displacement, elevated JVP, bilateral pedal edema, mild ascites, positive hepatojugular reflux, and systolic murmurs. Respiratory examination indicated bilateral crepitation and wheezes. Musculoskeletal examination showed decreased muscle mass and power, especially in proximal muscles. Abdominal examination revealed hepatosplenomegaly and mild ascites. Radiological findings included an enlarged cardiac shadow with pleural effusion and bilateral radio-opaque shadows on chest x-ray, while echocardiography showed impaired left ventricular systolic function with mild to moderate mitral and tricuspid regurgitation. Laboratory tests indicated elevated aspartate aminotransferase, LDH, and creatine kinase levels, along with normocytic, normochromic anemia. Muscle biopsy from the hamstring revealed PAS stain positive granules. These clinical, radiological, and laboratory findings strongly suggest late-onset Pompe disease, marking this as potentially the second reported case in Pakistan.

Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling.

Acral peeling skin syndrome (APSS; MIM 609796) is a rare genodermatosis characterized by painless focal cutaneous exfoliation of the dorsal hands and feet, typically displaying autosomal recessive inheritance. While cases associated with a founder mutation in TGM5 are relatively common in European Caucasian populations, no APSS cases have been reported from Japan or other East Asian countries. In contrast, Nagashima-type palmoplantar keratosis (NPPK; MIM 615598), caused by variants in SERPINB7, is relatively common in East Asia due to founder mutations. We describe a 27-year-old Japanese woman with spontaneous focal cutaneous exfoliation of the dorsal hand following prolonged glove use, indicative of APSS. Histopathological examination revealed a cleft between the stratum corneum and stratum granulosum and within the horny layer of the epidermis, supporting this diagnosis. However, her mother and maternal uncle exhibited similar symptoms, and there was no reported consanguinity in the patient's parents or grandparents, prompting suspicion of an autosomal dominant genodermatosis. Whole-genome sequencing (WGS) revealed compound heterozygous variants in TGM5 (c.1037G>A and c.684 + 1G>A) as suspected causative variants in the patient, leading to an APSS diagnosis, the first reported in East Asia. On the other hand, her mother and maternal uncle were diagnosed with NPPK due to compound heterozygous pathogenic variants in SERPINB7 (c.796C>T and c.455-1G>A). This case highlights the complexity of diagnosing skin disorders when multiple genodermatoses with similar phenotypes exist within a pedigree. Comprehensive genetic analyses, such as whole-exome sequencing and WGS, are invaluable for identifying causative variants in such complex cases.

Gatekeeping girls’ access to education: an exploration of matrilineal relationships, gatekeepers, and contentions at the micro-household-level

The lack of attention to micro-politics at the household-level makes us miss the gatekeeping strategies that family members at the micro household-level employ to enable, and or hinder education access for children, especially girls. In this paper, I draw on qualitative interviews and autobiographical narratives of 15 women from matrilineal societies to explore answers to the question: How did gatekeeping shape gendered pathways to education access for women born between 1917 and 1957? Examining this demography is essential as it addresses the often-overlooked education access dynamics among women born within this specific timeframe in education research. This paper makes the case that a complex web of gatekeeping systems regarding access to education existed at the micro household family-levels in Ghana. Particularly in matrilineal societies, maternal uncles, maternal grand uncles, and fathers collectively acted as gatekeepers regulating girls’ access to education. The findings underscore the role of cultural resources in facilitating men’s control over family finances, breadwinning roles, and decision-making processes, thereby acting as gatekeepers limiting girls’ access to education. Gatekeeping access created two pathways, non-access, and access with conditions. Access with conditions explain how girls were restricted to reading courses typical to their gender and attending schools of the gatekeeper’s choice. These gatekeeping practices shaped the education access and life outcomes of Ghana’s pioneering generation of educated women.

How Others Matter in Children’s Socialization: The Huotang-Centered Allomothering System Among the Matrilineal Mosuo

Allomothering, the practice of child-rearing by caregivers other than childrens’ mothers, has garnered more attention recently. This study examined allomothering within the matrilineal Mosuo, an ethnic group in Southwestern China known for its nonmarital reproductive and dual-residence system, in which partners maintain separate residences, fostering cooperative multigenerational child-rearing. Still, specific parental interactions within the Mosuo have not been completely investigated. Using the grounded theory approach, we conducted two rounds of semi-structured interviews to explore Mosuo’s allomothering system and child socialization practices. Initial interviews (N = 19, M = 53.68) focused on child-rearing beliefs and family relationships. Subsequent interviews with caregivers (N = 17, M = 40.6) and children (N = 19, M = 15.7) delved into detailed intergenerational parental interactions. Our findings show that grandmothers primarily handled children’s daily care, with mothers and sisters dividing responsibilities for financial provisions and co-caregiving. Mothers tended to enforce discipline, and aunts provided nurturing attention. A female-led “Huotang-focused” allomothering system is prevalent, where “Huotang” signifies the communal hearth, central to family interactions. Maternal uncles, while not directly involved in care, oversaw moral and behavioral guidance and assumed economic obligations. Fathers, exhibiting less authority than maternal uncles, predominantly engaged in rough-and-tumble play, marking their interactions with their children by distinctive friend-like characteristics. Children’s socialization reflected legitimate peripheral participation, with the children observing and modeling their maternal caregivers’ behaviors and beliefs. Mosuo’s allomothering interactions offer fresh insights into cooperative strategies and prompt a reconsideration of traditional parental roles in child socialization.

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression

BackgroundExploring the expression of X linked disorders like haemophilia A (HA) in females involves understanding the balance achieved through X chromosome inactivation (XCI). Skewed XCI (SXCI) may be involved in...

E031 Retinal vasculitis with Libman-Sacks endocarditis as presenting features of a systemic lupus erythematosus with antiphospholipid antibody syndrome patient

Abstract Background/Aims Ocular manifestations of systemic lupus erythematosus (SLE) are rarely reported at the time of disease onset. Retinal vasculitis is usually associated with the active generalised disease. We report a case of a 22-year-old lady who was diagnosed with SLE with antiphospholipid antibody syndrome (APS) as the initial presentation of retinal vasculitis and Libman-Sacs endocarditis. Methods A 22-year-old lady with a background history of benign hypermobility spectrum disorder, presented to the eye casualty with a 4-week history of right-sided visual disturbances and was diagnosed with retinal vasculitis associated with uveitis, central retinal vein occlusion with multiple emboli in the retinal artery of the right eye and a single embolus in the left eye. In terms of family history, both father and brother were diagnosed with spondyloarthropathy, and the maternal uncle had Sjogren’s syndrome. She was then referred to the medical team for proper evaluation. On query, she mentioned photosensitive rash on her face getting worse in sunlight, a history of Raynaud’s phenomenon, significant hair loss, and one miscarriage before the 10 weeks of gestation. On examination, mild alopecia and a faint butterfly rash on the face were noted. Cardiac auscultation revealed pansystolic murmur. The rest of the systemic examinations were unremarkable. Results The blood test showed thrombocytopenia (130 u/L), positive antinuclear antibody (1:80, speckled pattern) with anti-double stranded DNA (26 IU/L), low complement (C3-0.74, C4- 0.12), markedly raised anticardiolipin antibody IgG (2016 u/ml), anti beta 2 glycoprotein 1 IgG ( >6100 u/ml) including presence of lupus anticoagulant. Her urinary protein creatinine ratio was 66mg/mmol. 3 sets of blood cultures came back negative. Transthoracic echo showed vegetation on the posterior mitral valve leaflet (0.95x 1.2cm) with moderate mitral regurgitation while transesophageal echo additionally found the possibility of perforation at the junction of leaflets of the mitral valve which was later confirmed by cardiac magnetic resonance imaging (MRI). The head MRI scan did not show any central nervous system abnormality. She was initially treated with 500mg intravenous methylprednisolone for 3 days followed by 20mg oral prednisolone daily with gradual tapering. Hydroxychloroquine and mycophenolate mofetil were added. Her case was discussed in the cardiology multidisciplinary team meeting and an opinion from the cardiothoracic surgery was taken to consider valve replacement in the future. Due to aspirin allergy, only warfarin was considered for APS. She had 2 sessions of pan-retinal photocoagulation as well. In subsequent follow-up, it was noted significant improvements in terms of her symptoms. Conclusion Vaso-occlusive retinopathy is a rare, potentially vision-threatening initial manifestation of SLE, which can be an indicator of active disease. Early identification of patients is necessary for timely intervention and multidisciplinary team involvement is required for comprehensive treatment plans. Disclosure M. Islam: None. S. Quddus: None. M. Hughes: None. R. Kumar: None.

Association between G6PD deficiency and schizophrenia A case report

IntroductionG6PD is essential for the production of NADPH, which is a cofactor for many enzymes involved in antioxidant defense and neurotransmitter synthesis. A deficiency in this enzyme could lead to increased oxidative stress, impaired neurotransmitter and immune function. The latter have been implicated in the pathophysiology of schizophrenia.ObjectivesThe present case is presented to underscore the infrequent and uncharacteristic manifestation of this condition, in the context of clinical symptoms and the trajectory of evolution of schizophrenia when associated with G6PD Deficiency. Moreover, it sheds light on the challenges clinicians encounter in the management of such cases.MethodsA case report of a patient who was admitted to the Psychiatry Department (“Ibn Omrane”) of Razi Hospital”.ResultsMr. M.T is a 26 year-old unmarried man. He comes from a non-consanguineous marriage and has an educational level of a bachelor’s degree plus three additional years of study. He has a significant family medical history. His maternal uncle is under treatment for a chronic psychotic disorder. He has a personal history of G6PD deficiency and no specific habits to note. At the age of 24, he insidiously developed anxiety with incoherent statements of persecution accompanied by behavioral manifestations leading to mistrust and social isolation. He discontinued his studies for a year and began verbalizing suicidal thoughts accompanied by self-harm behaviors.The family sought help from a psychiatrist who prescribed 5 mg of olanzapine, which was covertly administered to the patient.At the age of 28, after a suicide attempt, he was involuntarily admitted to Razi Hospital. The clinical presentation was dominated by disorganization, with a partial response to treatment.ConclusionsMore research is needed to confirm the association between G6PD deficiency and schizophrenia and to determine the underlying mechanisms. Larger studies with well-defined populations and methodologies are needed. It is also important to study the interaction between G6PD deficiency and other genetic and environmental factors that contribute to schizophrenia.Disclosure of InterestNone Declared

Mana Deva I: The First Recorded Unifier of Nepal

This paper gives an insight into the efforts of King Mana Deva I as the first recorded Unifier of Nepal. The objective of this paper is to highlight various dimensions of the unification efforts of Mana Deva I. The writer has attempted to put forward the evidence and findings of historians and archeologists who have come to the common understanding that Mana Deva I was the first recorded unifier of ancient Nepal. Analytical approach has been used for the research of his life, leadership, and achievements. Studies of the inscriptions, important documents, books, journals, and articles have been made relating to Mana Deva. He provided the first authentic history of Nepal extending from Brahmaputra in the east to Kashmir in the west. When Mana Deva I was only 12 years old, his father Dharma Deva died. Instead of burning herself with her dead husband’s corpse as Sati, Mana Deva’s mother, Rajyawati, assisted her son in his reign. Mana Deva, with the assistance of his mother and maternal uncle, began a military unification effort both in the east and west. The success of the military unification effort provided an opportunity for the king to unify the nation in other aspects as well. Mananka- the coin introduced by the king led to economic unification; Managriha- his royal palace provided a center for administrative unification; and his religious synergetic activities led to cultural unification. The leadership of Mana Deva I greatly impacted and influenced the later Lichhavi kings and hence, Lichhavi's rule is considered the golden period of ancient Nepali history.

Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene

To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus (GEFS+). Three GEFS+ probands and their pedigree members presented at the Children's Hospital of Zhengzhou University from January 2020 to December 2021 were selected as the study subjects. Clinical data of the pedigrees were collected. Whole exome sequencing was carried out for the probands, and Sanger sequencing was used to verify the candidate variants. Proband 1 was a 3-year-and-2-month-old male with febrile seizure plus. His father, two aunts, grandmother, aunt grandmother, uncle grandfather, and paternal great-grandmother also had onset of febrile seizures at 1 ~ 2 years of age with remission before 6 years old. Proband 2 was a 1-year-and-4-month-old male with complex febrile seizure. His mother, maternal uncle, and maternal grandmother also had febrile seizures before 5 ~ 6 years of age. Proband 3 was a 3-year-and-11-month-old male with febrile seizure plus. His father and grandfather also had febrile seizures plus with remission at 7 ~ 8 years of age. Genetic testing revealed that proband 1 had harbored a paternally derived heterozygous SCN1A: c.1613T>C variant, proband 2 had harbored a maternally derived heterozygous SCN1A: c.2804A>G variant, and proband 3 had harbored a paternally derived heterozygous SCN1A: c.1271T>C variant. All of the three variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (PM1+PM2_Supporting+PP1+PP3+PP4). The c.1613T>C, c.2804A>G and c.1271T>C variants probably underlay the pathogenesis of GEFS+ in these pedigrees.

Kedudukan Żawil Arḥȃm Pada Warisan Dalam Perspektif Hukum Islam

This research aims to determine the heirs in the żawil arḥȃm group according to Islamic law. And to find out the position of żawil arḥȃm in inheritance from the perspective of Islamic law. This research was carried out using library research and paying attention to the field (Field Research). Literature study is a process of searching for various literature, the results of studies related to the research to be carried out. Literature study can be likened to a key that will open everything that can help solve research problems. The results of the research show that the heirs in the żawil arḥȃm group are (1) maternal grandfather, (2) every grandfather or grandmother who dies gets an inheritance, (3) grandchildren from the daughter's side, (4) daughters from the brother's side. son, (5) Sister's son, (6) Mother's brother's son, (7) Mother's uncle, (8) Uncle's daughter, (9) Father's aunt (father's sister), ( 10) Maternal uncles and aunts (mother's brothers and sisters). This is explained by Imam Nawawi in the book Raudhatut Thâlibîn, and Wahbah Zuhaili in the book al-Fiqhul Islam wa Adillatuhu. Meanwhile, according to the Malik and Syafi'i schools of thought, dzawil arham does not inherit. If someone dies without leaving dzawil furudh or ashabah, while he has żawil arḥȃm, then tirkah is given to Baitul mal. Because in the verses Mawaris only explains the ashabul furudh and ashabah parts. Allah does not mention the żawil arḥȃm part at all. Meanwhile, Abu Hanifah and Ahmad are of the opinion that żawil arḥȃm was given a will based on the word of Allah SWT in Surah Al-Ahzab verse 6. And the position of żawil arḥȃm in inheritance is as a non-permanent heir (outside of fardhu and ashobah experts), and as a place to resolve inheritance problems when there are no fardhu and ashobah experts. And those who do not make the dzawil arham an irregular heir, then the settlement is through radd to the żawil furudh which takes precedence over the inheritance of the żawil arḥȃm, but they inherit together with the person who does not get the radd, namely husband and wife.

A Reading on the Structuralism, Complex Kinship Structures, and the Maternal Uncle Issue in the Claude Levi Strauss Approach

A Reading on the Structuralism, Complex Kinship Structures, and the Maternal Uncle Issue in the Claude Levi Strauss Approach

The Opposition of “Kindred / Alien” in Small Genres of Buryat Folklore

The paper reveals the peculiarities of the opposition of friend / foe (or kindred / alien) in the family-kinship relations of Buryats on the example of Buryat proverbs and sayings in the aspect of semantic content of the text. It is relevant to study the role of the universal opposition of one’s own / another’s in the formation of people’s interaction in society, to identify national specifics in the use of mechanisms of identity and differences in paroemias. The work involves the materials of field research of recent years, archival and published sources proving the stability and preservation of small genres of folklore. It is revealed that in the local tradition, formulaic expressions similar in meaning can change their semantics, complementing and expanding the functions of the main character. It is established that the most common and preserved are proverbs about the maternal uncle with a positive connotation. It should also be concluded that in Buryat proverbs, the duality of the position of the maternal side and the recognition of the paternal, then maternal side of one’s close to a certain extent influenced the modification of oppositional markers of relatives-nephews.