Cantrellova pentalogie je vzácný syndrom spojený s embryologickou vadou střední linie zahrnující řadu malformací: anomálie dolní části hrudní kosti, přední části bránice, srdce a přední části břišní stěny. Lze jej klasifikovat jako úplný, pravděpodobný nebo částečný, ale nejdůležitější je popsat a pochopit příslušné anomálie. Popisujeme případ pozdní diagnózy Cantrellovy pentalogie v 35. týdnu a 5 dnech těhotenství u ženy z vnitrozemí státu Pará v brazilské Amazonii. Fetální echokardiografie potvrdila diagnózu Cantrellovy pentalogie s Fallotovou tetralogií a ultrazvukové vyšetření ukázalo oboustranný talipes. Císařský řez byl proveden ve 36. týdnu z důvodu preeklampsie superponované na chronickou arteriální hypertenzi se známkami závažného průběhu. Novorozenec mužského pohlaví se narodil s hmotností 2 320 g. Postnatální echokardiografie potvrdila diagnózu Cantrellovy pentalogie a karyotyp byl normální (46, XY). Novorozenec byl propuštěn ve 47 dnech věku s dobrým hmotnostním přírůstkem, umělým kojením a ambulantním sledováním kardiologem a kardiochirurgem.

Cantrell’s pentalogy is a rare syndrome associated with a midline embryological defect involving a series of malformations: anomalies of the lower sternum, anterior diaphragm, heart, and anterior abdominal wall. It can be classified as complete, probable or partial, but the most important thing is to describe and understand the anomalies involved. We describe a case of a late diagnosis of Cantrell’s pentalogy at 35 weeks and 5 days of pregnancy in a woman from the interior of Pará state, an Amazon Brazilian region. Fetal echocardiography confirmed the diagnosis of Cantrell’s pentalogy with tetralogy of Fallot and ultrasound examination showing a bilateral clubfoot. Cesarean section was performed at 36 weeks because of pre-eclampsia superimposed on chronic arterial hypertension with signs of severity. The male newborn was delivered weighting 2,320 grams. Postnatal echocardiography confirmed the diagnosis of Cantrell’s pentalogy and karyotype was normal (46, XY). Infant was discharged at 47 days of age with good weight gain, artificial breastfeeding, and outpatient follow-up by the cardiology and cardiac surgery specialists.

• MeSH
• Cantrellova pentalogie * diagnóza   terapie   MeSH
• císařský řez MeSH
• echokardiografie metody   MeSH
• Fallotova tetralogie diagnostické zobrazování   MeSH
• lidé MeSH
• mnohočetné abnormality diagnostické zobrazování   MeSH
• novorozenec MeSH
• pes equinovarus diagnostické zobrazování   MeSH
• preeklampsie MeSH
• prenatální diagnóza metody   MeSH
• ultrasonografie prenatální metody   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• Publikační typ
• kazuistiky MeSH

Male infertility is a multifactorial condition contributing to approximately 50% of all cases of couple infertility. In recent years, significant advances have been made in both diagnostics and treatment. This review summarizes key developments from 2019 to 2024 with direct relevance to routine clinical practice in Czech urology and andrology. Particular attention is paid to the updated semen analysis standards (World Health Organisation 6th edition, 2021), sperm DNA fragmentation testing, genetic evaluation (karyotyping, Y chromosome microdeletions, and exome sequencing), surgical management of varicocele, and sperm retrieval techniques for azoospermia, including microdissection testicular sperm extraction (micro-TESE). The article also discusses pharmacological options (gonadotropins, selective estrogen receptor modulators, antioxidants), the impact of lifestyle factors, and the importance of interdisciplinary collaboration with assisted reproduction centers. Future perspectives, including the role of preventive strategies in male reproductive health, are also addressed. The aim is to provide a comprehensive and clinically applicable overview of current recommendations and therapeutic approaches in andrology, with a focus on their implementation in the Czech urological setting.

• MeSH
• analýza spermatu metody   MeSH
• antioxidancia farmakologie   terapeutické užití   MeSH
• asistovaná reprodukce MeSH
• genetické testování metody   MeSH
• gonadotropiny terapeutické užití   MeSH
• lidé MeSH
• mužská infertilita * diagnóza   etiologie   terapie   MeSH
• odběr spermií MeSH
• selektivní modulátory estrogenních receptorů farmakologie   terapeutické užití   MeSH
• varikokéla chirurgie   MeSH
• životní styl MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• systematický přehled MeSH

The purpose of this study is to elucidate the genetic causes and phenotypic presentation of nonfamilial tall stature (nFTS) and to compare these findings with those of familial tall stature (FTS) from the same population that was previously studied. Children with nFTS (defined as a height > + 2 SDs with both parents' heights < + 2 SDs) underwent endocrine and anthropometric examinations and genetic testing (karyotyping, SHOX gene dosage analysis and next-generation sequencing of 786 growth-associated genes). Exome sequencing was performed in patients with negative genetic results and a height > + 3 SDs. A total of 55 children with nFTS were enrolled. The median height was + 2.8 SD (2.4-3.2 SD), and the median midparental height was + 0.7 SD (0.4-0.9 SD). Genetic causes of tall stature were identified in 6/55 (11%) children. Specifically, four children had gonosomal aneuploidy (47,XXY [2x], 47,XXX, 48,XXXX), one had a heterozygous complex rearrangement including SHOX gene duplication, and one carried a pathogenic variant in the TGFBR2 gene leading to Loeys-Dietz syndrome. A genetic cause of tall stature was significantly less common in nFTS (11%) than in our previously published cohort with FTS (32%). Conclusion: Cytogenetic abnormalities were the predominant genetic alteration identified in children with nFTS, confirming the justification of karyotype analysis in this cohort. The probability of genetic alterations was greater in children with FTS than in those with nFTS. Our findings suggest that the current guidelines for complex investigation are efficient for children with nFTS but need revision in children with FTS. What is known - what is new • Although tall stature is generally considered beneficial, it can be associated with health risks which need to be recognized in time. Tall stature without intellectual impairment is usually considered to be polygenic. • However, the cause of familial tall stature was monogenic more often than it was thought previously. • Children with non-familial and apparently non-syndromic tall stature have never been systematically investigated. • Monogenic causes of non-familial tall stature were observed in 11% of patients, including a participant with Loeys-Dietz syndrome.

• MeSH
• chromozomální aberace * MeSH
• dítě MeSH
• fenotyp MeSH
• genetické testování MeSH
• karyotypizace MeSH
• lidé MeSH
• mladiství MeSH
• poruchy růstu * genetika   MeSH
• předškolní dítě MeSH
• protein SHOX MeSH
• sekvenování exomu MeSH
• tělesná výška * genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH

Epilepsia je komplexné neurologické ochorenie, ktoré postihuje 40 - 60 miliónov ľudí na celom svete. V patogenéze epilepsie zohrávajú významnú úlohu viaceré genetické faktory, čo vedie k rastúcemu významu genetiky v oblasti epileptológie. S rozvojom metodík využívajúcich masívne paralelné sekvenovanie boli identifikované mnohé DNA varianty spôsobujúce epilepsiu, čím sa zlepšuje naše chápanie molekulárnych mechanizmov súvisiacich s klinickými prejavmi geneticky podmienených epilepsií. V tejto práci ponúkame prehľad súčasných, ale aj budúcich možností genetickej diagnostiky epilepsie, ktorá prostredníctvom určenia génových variantov u pacientov s monogénovou aj polygénovou epilepsiou môže otvoriť cestu k cielenej personalizovanej diagnostike a liečbe.

Epilepsy is a complex neurological disease that affects 40-60 million people worldwide. Multiple genetic factors play a significant role in the pathogenesis of epilepsy, leading to the growing importance of genetics in the field of epileptology. With the development of methodologies using massively parallel sequencing, many DNA variants causing epilepsy have been identified, improving our understanding of the molecular mechanisms involved in the clinical manifestations of genetically determined epilepsies. In this paper, we offer an overview of current but also future possibilities for genetic diagnostics of epilepsy, which, by identifying gene variants in patients with both monogenic and polygenic epilepsy, may open the way to targeted personalized diagnosis and treatment.

• MeSH
• diagnostické techniky molekulární metody   MeSH
• epilepsie * diagnóza   genetika   klasifikace   MeSH
• genetické testování * metody   MeSH
• karyotypizace metody   MeSH
• lidé MeSH
• sekvenování celého genomu metody   MeSH
• sekvenování exomu metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• přehledy MeSH

The influence of t(v;22) sole, major route ACAs all (+8, n = 14; +Ph, n = 10; +19, n = 1), and -Y sole on progression-free survival. Survival curves are compared with those of patients with the standard t(9;22) translocation. Other ACAs or complex karyotypes did not influence survival.

• MeSH
• chromozomální aberace * MeSH
• chronická myeloidní leukemie * genetika   diagnóza   mortalita   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• lidské chromozomy, pár 22 genetika   MeSH
• lidské chromozomy, pár 9 genetika   MeSH
• přežití bez známek nemoci MeSH
• prognóza MeSH
• senioři MeSH
• translokace genetická * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• dopisy MeSH

• MeSH
• cytogenetika MeSH
• terminologie jako téma MeSH

• Konspekt
• Obecná genetika. Obecná cytogenetika. Evoluce
• NLK Obory
• cytologie, klinická cytologie
• genetika, lékařská genetika
• NLK Publikační typ
• kolektivní monografie

Satellite DNAs (satDNAs) are abundant components of eukaryotic genomes, playing pivotal roles in chromosomal organization, genome stability, and evolution. Here, we combined cytogenetic and genomic methods to characterize the satDNAs in the genomes of Leptidea butterflies. Leptidea is characterized by the presence of a high heterochromatin content, large genomes, and extensive chromosomal reshuffling as well as the occurrence of cryptic species. We show that, in contrast to other Lepidoptera, satDNAs constitute a considerable proportion of Leptidea genomes, ranging between 4.11% and 11.05%. This amplification of satDNAs, together with the hyperactivity of transposable elements, contributes to the substantial genome expansion in Leptidea. Using chromosomal mapping, we show that, particularly LepSat01-100 and LepSat03-167 satDNAs, are preferentially localized in heterochromatin exhibiting variable distribution that may have contributed to the highly diverse karyotypes within the genus. The satDNAs also exhibit W-chromosome accumulation, suggesting their involvement in sex chromosome evolution. Our results provide insights into the dynamics of satDNAs in Lepidoptera genomes and highlight their role in genome expansion and chromosomal organization, which could influence the speciation process. The high proportion of repetitive DNAs in the genomes of Leptidea underscores the complex evolutionary dynamics revealing the interplay between repetitive DNAs and genomic architecture in the genus.

• MeSH
• fylogeneze MeSH
• genom hmyzu * MeSH
• heterochromatin genetika   MeSH
• karyotyp * MeSH
• mapování chromozomů MeSH
• molekulární evoluce * MeSH
• motýli * genetika   MeSH
• satelitní DNA * genetika   MeSH
• transpozibilní elementy DNA MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• achondroplazie patologie   MeSH
• antropometrie * metody   MeSH
• familiární hypofosfatemická rachitida patologie   MeSH
• index tělesné hmotnosti MeSH
• lidé MeSH
• Marfanův syndrom patologie   MeSH
• Noonanové syndrom patologie   MeSH
• poruchy růstu * diagnóza   patologie   MeSH
• tělesné váhy a míry * MeSH
• vývoj dítěte MeSH
• Check Tag
• lidé MeSH

The genomes of many plants, animals, and fungi frequently comprise dispensable B chromosomes that rely upon various chromosomal drive mechanisms to counteract the tendency of non-essential genetic elements to be purged over time. The B chromosome of rye - a model system for nearly a century - undergoes targeted nondisjunction during first pollen mitosis, favouring segregation into the generative nucleus, thus increasing their numbers over generations. However, the genetic mechanisms underlying this process are poorly understood. Here, using a newly-assembled, ~430 Mb-long rye B chromosome pseudomolecule, we identify five candidate genes whose role as trans-acting moderators of the chromosomal drive is supported by karyotyping, chromosome drive analysis and comparative RNA-seq. Among them, we identify DCR28, coding a microtubule-associated protein related to cell division, and detect this gene also in the B chromosome of Aegilops speltoides. The DCR28 gene family is neo-functionalised and serially-duplicated with 15 B chromosome-located copies that are uniquely highly expressed in the first pollen mitosis of rye.

• MeSH
• Aegilops genetika   metabolismus   MeSH
• chromozomy rostlin * genetika   MeSH
• karyotypizace MeSH
• mitóza * genetika   MeSH
• nondisjunkce genetická MeSH
• pyl genetika   MeSH
• regulace genové exprese u rostlin MeSH
• rostlinné geny MeSH
• rostlinné proteiny genetika   metabolismus   MeSH
• žito * genetika   MeSH
• Publikační typ
• časopisecké články MeSH

CONTEXT: Familial tall stature (FTS) is considered to be a benign variant of growth with a presumed polygenic etiology. However, monogenic disorders with possible associated pathological features could also be hidden under the FTS phenotype. OBJECTIVE: To elucidate the genetic etiology in families with FTS and to describe their phenotype in detail. METHODS: Children with FTS (the life-maximum height in both the child and his/her taller parent > 2 SD for age and sex) referred to the Endocrinology center of Motol University Hospital were enrolled into the study. Their DNA was examined cytogenetically and via a next-generation sequencing panel of 786 genes associated with growth. The genetic results were evaluated by the American College of Molecular Genetics and Genomics guidelines. All of the participants underwent standard endocrinological examination followed by specialized anthropometric evaluation. RESULTS: In total, 34 children (19 girls) with FTS were enrolled in the study. Their median height and their taller parent's height were 3.1 SD and 2.5 SD, respectively. The genetic cause of FTS was elucidated in 11/34 (32.4%) children (47,XXX and 47,XYY karyotypes, SHOX duplication, and causative variants in NSD1 [in 2], SUZ12 [in 2], FGFR3, CHD8, GPC3, and PPP2R5D genes). Ten children had absent syndromic signs and 24 had dysmorphic features. CONCLUSION: Monogenic (and cytogenetic) etiology of FTS can be found among children with FTS. Genetic examination should be considered in all children with FTS regardless of the presence of dysmorphic features.

• MeSH
• dítě MeSH
• fenotyp MeSH
• genetické testování * metody   MeSH
• lidé MeSH
• mladiství MeSH
• poruchy růstu genetika   diagnóza   MeSH
• předškolní dítě MeSH
• tělesná výška * genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH