КЛИНИКО-ГЕНЕТИЧЕСКИЕ ОСОБЕННОСТИ БОЛЕЗНИ НИМАННА–ПИКА, ТИП С

Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI «RCMG» of RAMS, are discussed in this review.Болезнь Ниманна–Пика, тип С — редкое наследственное заболевание из класса лизосомных болезней накопления, обусловленное мутациями в генах NPC1 или NPC2. В зависимости от времени начала заболевания выделяют несколько клинических форм, различающихся по возрасту манифестации, основным клиническим проявлениям и характеру течения. Болезнь Ниманна–Пика, тип С может протекать под масками других наследственных и приобретенных заболеваний, что затрудняет ее раннюю диагностику. В данной публикации обсуждается клинико-генетическое разнообразие данной патологии, рассмотренное на случаях, диагностированных в ФГБУ «МГНЦ» РАМН.

Ternary palladium – Group 12 metal compounds of the Pd5TlAs-type: A case study

Three metal-rich palladium-zinc and platinum-zinc selenium- and phosphorus-containing compounds, Pd5ZnSe, Pd5ZnP, and Pt5ZnP, were synthesized using a high-temperature ampoule technique. Their crystal structures were determined from single-crystal synchrotron data (Pd5ZnSe)or Rietveld analysis of powder diffraction data (Pd5ZnSe, Pd5ZnP, and Pt5ZnP). All the compounds crystallize in tetragonal system with P4/mmm space group and belong to the Pd5TlAs structure type, with their main structural units being zinc-centered [TM12Zn]cuboctahedra (TM = Pd, Pt)of the AuCu3-type, single-stacked along the c axis, alternating with [TM8P]rectangular prisms of the PtHg2 type. DFT electronic structure calculations predict all compounds to be 3D metallic conductors and to show diamagnetic behavior. Charge density analysis shows that all compounds are intermetallic in nature. According to the bonding analysis based on the electron localizability indicator topology, all compounds in the TM5MQ series (TM ​= ​Pd, Pt; M ​= ​Zn, Cd, Hg; Q ​= ​Se, P)feature four-centered interactions of the 3TM ​+ ​M type between the transition metal and group 12 atoms in their heterometallic fragments. Additionally, essentially pairwise interactions between platinum atoms are also observed, indicating a somewhat more localized bonding in the case of platinum-based compounds. The use of iodine-assisted synthesis in the Pd–Zn–Se system reveals a new compound, Pd8Zn2Se, that exists as an admixture to Pd5ZnSe and, according to the Rietveld refinement data, can be regarded a second homologue to Pd5ZnSe. © 2019 Elsevier Inc

Serum cytokine profile, beta-hexosaminidase a enzymatic activity and gm<inf>2</inf> ganglioside levels in the plasma of a tay-sachs disease patient after cord blood cell transplantation and curcumin administration: A case report

Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder that occurs due to a deficiency of a β hexosaminidase A (HexA) enzyme, resulting in the accumulation of GM2 gangliosides. In this work, we analyzed the effect of umbilical cord blood cell transplantation (UCBCT) and curcumin administration on the course of the disease in a patient with adult TSD. The patient’s serum cytokine profile was determined using multiplex analysis. The level of GM2 gangliosides in plasma was determined using mass spectrometry. The enzymatic activity of HexA in the plasma of the patient was assessed using a fluorescent substrate assay. The HexA α-subunit (HexA) concentration was determined using ELISA. It was shown that both UCBCT and curcumin administration led to a change in the patient’s cytokine profile. The UCBCT resulted in an increase in the concentration of HexA in the patient’s serum and in an improvement in the patient’s neurological status. However, neither UCBCT nor curcumin were able to alter HexA activity and the level of GM2 in patient’s plasma. The data obtained indicate that UCBCT and curcumin administration can alter the immunity of a patient with TSD, reduce the level of inflammatory cytokines and thereby improve the patient’s condition