Branchioma is an uncommon benign neoplasm with an adult male predominance, typically occurring in the lower neck region. Different names have been used for this entity in the past (ectopic hamartomatous thymoma, branchial anlage mixed tumor, thymic anlage tumor, biphenotypic branchioma), but currently, the term branchioma has been widely accepted. Branchioma is composed of endodermal and mesodermal lineage derivatives, in particular epithelial islands, spindle cells, and mature adipose tissue without preexistent thymic tissue or evidence of thymic differentiation. Twenty-three branchiomas were evaluated morphologically. Eighteen cases with sufficient tissue were assessed by immunohistochemistry, next-generation sequencing (NGS) using the Illumina Oncology TS500 panel, and fluorescence in situ hybridization (FISH) using an RB1 dual-color probe. All cases showed a biphasic morphology of epithelial and spindle cells with intermingled fatty tissue. Carcinoma arising in branchioma was detected in three cases. The neoplastic cells showed strong AE1/3 immunolabeling (100%), while the spindle cells expressed CD34, p63, and SMA (100%); AR was detected in 40-100% of nuclei (mean, 47%) in 14 cases. Rb1 showed nuclear loss in ≥ 95% of neoplastic cells in 16 cases (89%), while two cases revealed retained expression in 10-20% of tumor cell nuclei. NGS revealed a variable spectrum of likely pathogenic variants (n = 5) or variants of unknown clinical significance (n = 6). Loss of Rb1 was detected by FISH in two cases. Recent developments support branchioma as a true neoplasm, most likely derived from the rudimental embryological structures of endoderm and mesoderm. Frequent Rb1 loss by immunohistochemistry and heterozygous deletion by FISH is a real pitfall and potential confusion with other Rb1-deficient head and neck neoplasms (i.e., spindle cell lipoma), especially in small biopsy specimens.

• MeSH
• Branchioma * pathology   MeSH
• Adult MeSH
• In Situ Hybridization, Fluorescence MeSH
• Humans MeSH
• Molecular Biology MeSH
• Thymus Neoplasms * MeSH
• Neoplasms, Glandular and Epithelial * MeSH
• Soft Tissue Neoplasms * pathology   MeSH
• Retinal Neoplasms * MeSH
• Retinoblastoma * genetics   pathology   MeSH
• Thymoma * MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Ectodysplasin (Eda) plays important roles in both shaping the developing tooth and establishing the number of teeth within the tooth row. Sonic hedgehog (Shh) has been shown to act downstream of Eda and is involved in the initiation of tooth development. Eda-/- mice possess hypoplastic and hypomineralized incisors and show changes in tooth number in the molar region. In the present study we used 3D reconstruction combined with expression analysis, cell lineage tracing experiments, and western blot analysis in order to investigate the formation of the incisor germs in Eda-/- mice. We show that a lack of functional Eda protein during early stages of incisor tooth germ development had minimal impact on development of the early expression of Shh in the incisor, a region proposed to mark formation of a rudimental incisor placode and act as an initiating signalling centre. In contrast, deficiency of Eda protein had a later impact on expression of Shh in the primary enamel knot of the functional tooth. Eda-/- mice had a smaller region where Shh was expressed, and a reduced contribution from Shh descendant cells. The reduction in the enamel knot led to the formation of an abnormal enamel organ creating a hypoplastic functional incisor. Eda therefore appears to influence the spatial formation of the successional signalling centres during odontogenesis.

• Publication type
• Journal Article MeSH

Cíl práce: Popis případu pacientky s Mayer-Rokitansky-Küster-Hauser (MRKH) syndromem a anamnézou chronické pánevní bolesti způsobené rostoucími myomy vycházejícími z rudimentárních rohů dělohy. Článek upozorňuje na vzácnou příčinu bolesti v podbřišku způsobenou gynekologickým onemocněním. Kazuistika: Předkládáme případ 61leté ženy s MRKH syndromem, která více než 1 rok trpěla chronickými bolestmi břicha. Pomocí magnetické rezonance a ultrasonografie bylo vysloveno podezření na tumory charakteru děložních myomů, které byly laparoskopicky odstraněny a histopatologicky potvrzeny. Závěr: MRKH syndrom je velmi vzácný. V ČR se narodí přibližně deset žen s touto diagnózou ročně. Výskyt myomů je u této skupiny žen sice extrémně raritní, ale je nutné ho vzít při diferenciální diagnostice v úvahu a včas chirurgicky řešit.

Objective: To describe the case of a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and a history of chronic pelvic pain due to myomas in the rudimentary uterine horns. The article highlights a rare origin of gynaecological pain. Case report: We present the case of 61-year-old woman with MRKH syndrome who has suffered from chronic abdominal pain for more than one year before surgery. Using magnetic resonance imaging and ultrasonography, a suspicion on the tumours of uterine myoma character in the rudimentary horns was suggested. It was confirmed by laparoscopy. Myomas were removed in the endobag and histopathologically confirmed. Conclusion: MRKH syndrome is a very rare disease. Approximately ten women are annually born with this congenital anomaly in the Czech Republic. While myoma incidence is extremely rare in this group of women, it must be taken into account in differential diagnosis and solved surgically in time.

• Keywords
• Mayer- Rokitansky-Küster-Hauser syndrom, rudimentární roh dělohy,
• MeSH
• Middle Aged MeSH
• Humans MeSH
• Myoma * surgery   diagnostic imaging   MeSH
• 46, XX Disorders of Sex Development * complications   MeSH
• Uterus abnormalities   surgery   pathology   MeSH
• Congenital Abnormalities MeSH
• Treatment Outcome MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

Třetí vydání populární učebnice evoluční biologie je určeno posluchačům magisterských a doktorandských kurzů evoluční biologie, molekulární fylogenetiky a evoluční parazitologie. Učebnice pokrývá ve 28 kapitolách veškerou problematiku oboru. Věnuje se mikroevolučním dějům (kapitoly Biologická evoluce, Dědičnost, Mutace, Přirozený výběr, Genetický drift, Genový tok, Evoluční tahy, Polymorfismus, Evoluce sekvence DNA, Evoluce genů, Evoluce pohlavního rozmnožování, Evoluční důsledky pohlavního rozmnožování, Koevoluce, Kulturní evoluce, Pohlavní výběr), makroevolučním dějům (kapitoly Vznik života, Evoluce ontogeneze a životního cyklu, Evoluce chování, Evoluce parazitů, Druhy, Speciace, Vymírání, Fylogenetika, Molekulární fylogenetika, Taxonomie a Makroevoluce) a obsahuje i dvě všeobecně zaměřené kapitoly (Kritika a obrana evolučních teorií a Historie evoluční biologie). Nakladatelská anotace; Publikace shrnuje aktuální poznatky z oblasti evoluční biologie.

• MeSH
• Biological Evolution MeSH
• Molecular Biology MeSH

• Conspectus
• Obecná genetika. Obecná cytogenetika. Evoluce
• Učební osnovy. Vyučovací předměty. Učebnice
• NML Fields
• molekulární biologie, molekulární medicína
• NML Publication type
• učebnice vysokých škol

Monografie našich předních specialistů v oboru je praktickým návodem, který se snaží poskytnout ucelené informace o příčinách, symptomech a léčbě nejčastějších patologických stavů v gynekologii dětí a dospívajících.Měla by pomoci v rychlé diagnostice problémů, předložit diferenciálně diagnostickou rozvahu a přinést jasná doporučení vedoucí k léčbě dané patologie a ke stabilizaci stavu. Publikace je určena především gynekologům a pediatrům všech zdravotnických zařízení. Současně však bude cenným zdrojem odborných informací pro postgraduální studium a předatestační přípravu v gynekologii a pediatrii.

• MeSH
• Child MeSH
• Genital Diseases, Female MeSH
• Gynecological Examination MeSH
• Genitalia, Female growth & development   MeSH
• Check Tag
• Child MeSH

• Conspectus
• Pediatrie
• NML Fields
• pediatrie
• gynekologie a porodnictví
• NML Publication type
• kolektivní monografie

Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) cause the most common genetic form of human dwarfism, achondroplasia (ACH). Small chemical inhibitors of FGFR tyrosine kinase activity are considered to be viable option for treating ACH, but little experimental evidence supports this claim. We evaluated five FGFR tyrosine kinase inhibitors (TKIs) (SU5402, PD173074, AZD1480, AZD4547 and BGJ398) for their activity against FGFR signaling in chondrocytes. All five TKIs strongly inhibited FGFR activation in cultured chondrocytes and limb rudiment cultures, completely relieving FGFR-mediated inhibition of chondrocyte proliferation and maturation. In contrast, TKI treatment of newborn mice did not improve skeletal growth and had lethal toxic effects on the liver, lungs and kidneys. In cell-free kinase assays as well as in vitro and in vivo cell assays, none of the tested TKIs demonstrated selectivity for FGFR3 over three other FGFR tyrosine kinases. In addition, the TKIs exhibited significant off-target activity when screened against a panel of 14 unrelated tyrosine kinases. This was most extensive in SU5402 and AZD1480, which inhibited DDR2, IGF1R, FLT3, TRKA, FLT4, ABL and JAK3 with efficiencies similar to or greater than those for FGFR. Low target specificity and toxicity of FGFR TKIs thus compromise their use for treatment of ACH. Conceptually, different avenues of therapeutic FGFR3 targeting should be investigated.

• MeSH
• Achondroplasia drug therapy   MeSH
• Benzamides pharmacology   MeSH
• Chondrocytes metabolism   MeSH
• Cartilage drug effects   metabolism   MeSH
• Phenylurea Compounds pharmacology   MeSH
• Catalysis drug effects   MeSH
• Cells, Cultured MeSH
• Chick Embryo MeSH
• Humans MeSH
• Mice MeSH
• Piperazines pharmacology   MeSH
• Pyrazoles pharmacology   MeSH
• Pyrimidines pharmacology   MeSH
• Pyrroles pharmacology   MeSH
• Receptors, Fibroblast Growth Factor antagonists & inhibitors   MeSH
• Signal Transduction drug effects   MeSH
• Syndrome MeSH
• Receptor Protein-Tyrosine Kinases antagonists & inhibitors   MeSH
• Animals MeSH
• Check Tag
• Chick Embryo MeSH
• Humans MeSH
• Mice MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

The successional dental lamina (SDL) plays an essential role in the development of replacement teeth in diphyodont and polyphyodont animals. A morphologically similar structure, the rudimental successional dental lamina (RSDL), has been described in monophyodont (only one tooth generation) lizards on the lingual side of the developing functional tooth. This rudimentary lamina regresses, which has been proposed to play a role in preventing the formation of future generations of teeth. A similar rudimentary lingual structure has been reported associated with the first molar in the monophyodont mouse, and we show that this structure is common to all murine molars. Intriguingly, a lingual lamina is also observed on the non-replacing molars of other diphyodont mammals (pig and hedgehog), initially appearing very similar to the successional dental lamina on the replacing teeth. We have analyzed the morphological as well as ultrastructural changes that occur during the development and loss of this molar lamina in the mouse, from its initiation at late embryonic stages to its disappearance at postnatal stages. We show that loss appears to be driven by a reduction in cell proliferation, down-regulation of the progenitor marker Sox2, with only a small number of cells undergoing programmed cell death. The lingual lamina was associated with the dental stalk, a short epithelial connection between the tooth germ and the oral epithelium. The dental stalk remained in contact with the oral epithelium throughout tooth development up to eruption when connective tissue and numerous capillaries progressively invaded the dental stalk. The buccal side of the dental stalk underwent keratinisation and became part of the gingival epithelium, while most of the lingual cells underwent programmed cell death and the tissue directly above the erupting tooth was shed into the oral cavity.

• MeSH
• Apoptosis physiology   MeSH
• Embryo, Mammalian embryology   MeSH
• Hedgehogs MeSH
• Molar embryology   MeSH
• Mice MeSH
• Swine MeSH
• SOXB1 Transcription Factors metabolism   MeSH
• Mouth Mucosa embryology   MeSH
• Animals MeSH
• Check Tag
• Mice MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Cíl: Seznámit s 2. českou studii o kryptoftalmu a s vlastním chirurgickým řešením. Sestava: Chlapec s jednostranným kryptoftalmem vlevo byl léčen od dvou do dvaceti let. Děvče bylo léčeno od čtyř měsíců do pěti let pro abortivní krytopftalmus s mikroblefaronem vpravo, kompletní kryptoftalmus vlevo na řešení čeká. Chirurgické metody a výsledky: Autoři prezentují chirurgické postupy na horních a dolních víčkách a očních anomáliích bulbů obou pacientů. Úspěšná rekonstrukce oční štěrbiny u chlapce proběhla v několika fázích. Chirurgické řešení se skládalo z jednotlivých fází: vkládání postupně zvětšujícího se konvexně-konkávního kruhovitého implantátu (silikonový kaučuk) směřujících k modelování oční štěrbiny, enukleace rudimentárního bulbu, rekonstrukce dna oční štěrbiny pomocí kožních retroaurikulárních štěpů a uvolnění dolní přechodné řasy pomocí metodiky cul-de-sac. Přiměřeně hluboká oční štěrbina umožnila dobrou pozici pro estetickou protézu. Enukleovaný bulbus byl atypického tvaru, připomínal přesýpací hodiny. Rohovka byla nahrazena tenkou fibrózní membránou, duhovka a čočka nebyly odhaleny. Gliomatózně přestavěná sítnice byla téměř totálně amována a optický nerv byl hypoplastický. U děvčete byla ve věku 17 měsíců provedena úprava kolobomu horního víčka pomocí otočného laloku z dolního víčka. Současně byl odstraněn dermoid z rohovky (histologicky verifikován). Horní fornix byl formován pomocí kulové krycí folie (silikonový kaučuk) před a po rekonstrukci horního víčka. Závěr: Plastické rekonstrukce vyžadovaly nutnost trpělivého přístupu bez snahy o okamžitý efekt. Významnou roli hrály dočasné implantáty z biomedicínského silikonového kaučuku. Klíčová slova: kryptoftalmus, mikroblefaron, plastická chirurgie, silikonové kaučukové implantáty

Aim: To get acquainted with the 2nd Czech study about cryptophthamos and with self-surgical methods. Material: The boy with unilateral complete cryptophthalmos of left eye was treated from 2 to 20 years. The girls was treated from 4 month to 5 year yet for right abortive cryptophthalmos with microblepharon and left complete type still waiting for solutions. Surgical methods and results: Authors present a surgical procedures for correction of the upper and lower eyelids and ocular anomalies both patients studied. Successful reconstruction of palpebral fissure took place in several stages at the boy. The surgical procedure gradually contained: the insertion of gradually increased convex concave circular-shaped implant (silicone ruber) due a modeling of palpebral fissure, an enucleation of rudimentary eye, a reconstruction of bottom palpebral fissure by retro-auricular skin graf and a releasing of the lower transitory fold by the cul-de-sac method. An adequate depth of palpebral fissure to allow perfect position of an aesthetic protesis. Enucleated eye was atypically shaped, remiding partly sand-glass clock. The cornea was replaced by thick fibrous membrane, the iris and the lens were not revealed. Gliomatic retina was detached nearly totaly and the optic nerv was rudimental. The repairing the upper lid coloboma of girl by a lid rotation flap reconstruction using the inferior eyelid was performed at the age 17 month. Corneal dermoid simultaneously removed (histologically verified). Upper conjunctival fornix was formed using the spherical covering foil (silicone rubber) before and after the reconstruction of the lid. Conclusions: Plastic reconstructions required the need for patient access without trying immediate effect. An important role played silicone rubber implants (elastomer medical grade) which used temporarily. Key words: cryptophthalmos, microblepharon, relief surgery, silicon ruber implants

• MeSH
• Eye Abnormalities surgery   MeSH
• Fraser Syndrome * diagnosis   surgery   complications   physiopathology   MeSH
• Infant MeSH
• Humans MeSH
• Eyelid Diseases surgery   congenital   MeSH
• Eyelids * anatomy & histology   surgery   growth & development   MeSH
• Ophthalmologic Surgical Procedures * methods   utilization   MeSH
• Surgery, Plastic methods   utilization   MeSH
• Child, Preschool MeSH
• Plastic Surgery Procedures MeSH
• Check Tag
• Infant MeSH
• Humans MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

Tooth development has attracted the attention of researchers since the 19th century. It became obvious even then that morphogenesis could not fully be appreciated from two-dimensional histological sections. Therefore, methods of three-dimensional (3D) reconstructions were employed to visualize the surface morphology of developing structures and to help appreciate the complexity of early tooth morphogenesis. The present review surveys the data provided by computer-aided 3D analyses to update classical knowledge of early odontogenesis in the laboratory mouse and in humans. 3D reconstructions have demonstrated that odontogenesis in the early stages is a complex process which also includes the development of rudimentary odontogenic structures with different fates. Their developmental, evolutionary, and pathological aspects are discussed. The combination of in situ hybridization and 3D reconstruction have demonstrated the temporo-spatial dynamics of the signalling centres that reflect transient existence of rudimentary tooth primordia at loci where teeth were present in ancestors. The rudiments can rescue their suppressed development and revitalize, and then their subsequent autonomous development can give rise to oral pathologies. This shows that tooth-forming potential in mammals can be greater than that observed from their functional dentitions. From this perspective, the mouse rudimentary tooth primordia represent a natural model to test possibilities of tooth regeneration.

• MeSH
• Biological Evolution MeSH
• Dentition MeSH
• Diastema embryology   MeSH
• In Situ Hybridization methods   MeSH
• Humans MeSH
• Mice MeSH
• Odontogenesis * genetics   physiology   MeSH
• Image Processing, Computer-Assisted MeSH
• Regeneration MeSH
• Imaging, Three-Dimensional methods   MeSH
• Tooth, Supernumerary embryology   MeSH
• Tooth embryology   physiology   MeSH
• Animals MeSH
• Check Tag
• Humans MeSH
• Mice MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Fibroblast growth factor (FGF) signalling appears essential for the regulation of limb development, but a full complexity of this regulation remains unclear. Here, we addressed the effect of three different chemical inhibitors of FGF receptor tyrosine kinases (FGFR) on growth and patterning of the chicken wings. The inhibitor PD173074 caused shorter and thinner wing when using lower concentration. Microinjection of higher PD173074 concentrations (25 and 50 mmol/L) into the wing bud at stage 20 resulted in the development of small wing rudiment or the total absence of the wing. Skeletal analysis revealed the absence of the radius but not ulna, deformation of metacarpal bones and/or a reduction of digits. Treatment with PD161570 resembled the effects of PD173074. NF449 induced shortening and deformation of the developing wing with reduced autopodium. These malformed embryos mostly died at the stage HH25-29. PD173074 reduced chondrogenesis also in the limb micromass cultures together with early inhibition of cartilaginous nodule formation, evidenced by lack of sulphated proteoglycan and peanut agglutinin expression. The effect of FGFR inhibition on limb development observed here was unlikely mediated by excessive cell death as none of the inhibitors caused massive apoptosis at low concentrations. More probably, FGFR inhibition decreased both the proliferation and adhesion of mesenchymal chondroprogenitors. We conclude that FGFR signalling contributes to the regulation of the anterior-posterior patterning of zeugopod during chicken limb development.

• MeSH
• Benzenesulfonates administration & dosage   pharmacology   MeSH
• Protein Kinase Inhibitors administration & dosage   pharmacology   MeSH
• Wings, Animal drug effects   embryology   MeSH
• Chick Embryo MeSH
• Pyrimidines administration & dosage   pharmacology   MeSH
• Receptors, Fibroblast Growth Factor antagonists & inhibitors   metabolism   MeSH
• Signal Transduction drug effects   MeSH
• Animals MeSH
• Check Tag
• Chick Embryo MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH