Long-term result after femoral head substitution in postinfectious aplasia of the femoral head

Purpose  

This case report presents a new and unique surgical greater trochanter split procedure for reconstructing a hip joint after an infantile hip sepsis with consequent aplasia of the femoral head.     

Atraumatic splenic rupture following IVIg for parvovirus B19 pure red cell aplasia post renal transplant

Parvovirus B19 (PB19) associated pure red cell aplasia (PRCA) is an uncommon but well described complication of immunosuppression post solid organ transplantation. We report a unique case of a renal transplant patient with PB19 associated PRCA who developed a spontaneous splenic rupture after receiving IVIg for persistent anemia. He subsequently required splenectomy. Within the spleen we subsequently identified PB19 affected cells.     

Further development of a model of chronic bone marrow aplasia in the busulphan-treated mouse

Aplastic anaemia (AA) in man is an often fatal disease characterized by pancytopenia of the peripheral blood and aplasia of the bone marrow. AA is a toxic effect of many drugs and chemicals (e.g. chloramphenicol, azathioprine, phenylbutazone, gold salts, penicillamine and benzene). However, there are no widely used or convenient animal models of drug-induced AA. Recently, we reported a new model of chronic bone marrow aplasia (CBMA = AA) in the busulphan (BU)-treated mouse: eight doses of BU (10.50 mg/kg) were administered to female BALB/c mice over a period of 23 days; CBMA was evident at day 91/112 post-dosing with significantly reduced erythrocytes, platelets, leucocytes and nucleated bone marrow cell counts. However, mortality was high (49.3%). We have now carried out a study to modify the BU-dosing regime to induce CBMA without high mortality, and investigated the patterns of cellular responses in the blood and marrow in the post-dosing period. Mice (n = 64/65) were dosed 10 times with BU at 0 (vehicle control), 8.25, 9.0 and 9.75 mg/kg over 21 days and autopsied at day 1, 23, 42, 71, 84, 106 and 127 post-dosing (n = 7-15); blood and marrow samples were examined. BU induced a predictable bone marrow depression at day 1 post-dosing; at day 23/42 post-dosing, parameters were returning towards normal during a period of recovery. At day 71, 84, 106 and 127 post-dosing, a stabilized, late-stage, nondose-related CBMA was evident in BU-treated mice, with decreased erythrocytes, platelets and marrow cell counts, and increased MCV. At day 127 post-dosing, five BU-treated mice showed evidence of lymphoma. In this study, mortality was low, ranging from 3.1% (8.25 mg/kg BU) to 12.3% (9.75 mg/kg BU). It is concluded that BU at 9.0 mg/kg (or 9.25 mg/kg) is an appropriate dose level to administer (10 times over 21 days) to induce CBMA at approximately day 50-120 post-dosing.     

Serum FLT-3 ligand in a busulphan-induced model of chronic bone marrow hypoplasia in the female CD-1 mouse

The concentration of the cytokine fms-like tyrosine kinase-3 ligand (FL) is elevated in the plasma of patients treated with chemotherapy or radiotherapy for malignant conditions. In addition, plasma FL is increased in patients with bone marrow failure resulting from stem-cell defects (e.g. aplastic anaemia). Our goal in the present study was to measure the concentration of serum FL in mice treated with the chemotherapeutic agent busulphan (BU) to induce bone marrow depression and relate changes in FL to effects on haemopoiesis. Female CD-1 mice were treated with BU (9.0 mg/kg) or vehicle by intraperitoneal injection on 10 occasions over 21 days. Animals were autopsied on days 1, 23, 72, 119 and 177 postdosing. A full blood count was performed, and serum prepared for FL analysis. Femoral marrow cell suspensions were prepared to assess the total femoral nucleated cell count (FNCC) and the number of committed haemopoietic progenitor cells (CFU-C). On days 1 and 23 postdosing, significant decreases were evident in many peripheral blood parameters; the FNCC and CFU-C were also reduced in BU-treated mice, in conjunction with increases in serum FL levels. On days 72, 119 and 177 postdosing, several peripheral blood and bone marrow parameters remained reduced and the concentration of serum FL continued to be significantly increased. Linear regression analysis demonstrated significant correlations between the concentration of serum FL in BU-treated mice and peripheral blood and bone marrow parameters; this suggests the possible use of serum FL as a potential biomarker for drug-induced bone marrow injury.     

Oral-facial-digital syndrome with fibular aplasia: a new variant

Figuera LE, Rivas F, Cantú JM. Oral-facial-digital syndrome with fibular aplasia: a new variant.
Clin Genet 1993: 44: 190–192. © Munksgaard, 1993
The oral-facial-digital (OFD) syndromes constitute a heterogeneous group of entities usually associated with certain features that permit a specific diagnosis. This report refers to a 10-month-old girl with cleft palate, mesomelic limb shortening, oligopolydactyly, and fibular aplasia. Since this combination has not been described previously, it is proposed as a distinct type of oral-facial-digital syndrome, and we suggest mutations of homeotic genes to explain some abnormalities present in the OFD syndromes.     

Maxillary and sphenoid sinus aplasia in Turkish individuals: a retrospective review using computed tomography

The absence of a maxillary or sphenoid sinus in an adult is an extremely rare condition. We investigated maxillary and sphenoid sinus aplasia in adult Turkish individuals using computed tomography (CT). We examined CT scans in the axial and coronal planes of the paranasal sinuses in 1,526 patients. The CT scans of a 21-year-old male were notable for bilateral maxillary sinus aplasia. Another patient, a 20-year-old female, had CT scans that showed the unilateral absence of a maxillary sinus. Two additional cases showed the unilateral absence of one sphenoid sinus. Bilateral absence of the sphenoid sinuses was not observed in our study. The clinical implications of maxillary and sphenoid sinus aplasia will be further discussed.     

Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys

We describe an apparently new syndrome in 2 unrelated boys with aplasia cutis congenita, epibulbar dermoids, postnatally appearing areas of truncal hyperpigmentation, and macrocephaly. © 1993 Wiley-Liss, Inc.     

Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome)

We report a stillborn female infant with multiple internal and external anatomic abnormalities and mosaicism for isochromosome 12p. These abnormalities included webbed neck, low-set ears, lower jaw tooth bud, left simian crease, shield chest, focal aplasia cutis, diaphragmatic hernia, hypoplastic lungs, agenesis of pericardium, and Meckel's diverticulum. Karyotypic analysis on cord blood lymphocytes showed 10% mosaicism of 46, XX/47, XX, + i(12p), and analysis of skin fibroblasts showed 50% mosaicism for the same karyotype. The parental karyotypes were normal. There are many reported cases describing the anomalies seen in isochromosome 12p. None of these cases, however, have displayed pericardial agenesis or aplasia cutis. The clinical and cytogenetic features of Pallister-Killian syndrome are reviewed.     

主要血型不合骨髓移植后纯红细胞再生障碍性贫血的临床观察

目的　探讨主要血型不合骨髓移植（ＭＩｃ－ ＢＭＴ）后的纯红细胞再生障碍性贫血（ＰＲＣＡ） 的临床及实验室特点。方法　对３ 例ＭＩｃ－ ＢＭＴ 后ＰＲＣＡ 的临床及实验室有关资料进行分析,并与９ 例对照组（８ 例血型相合,１ 例次要血型不合） 进行比较。结果　３ 例ＰＲＣＡ发生于ＭＩｃ－ ＢＭＴ后８ 周内,伴有较高的血型凝集素滴度;未治疗的ＰＲＣＡ 骨髓中幼红细胞比例在０．０５ 左右,网织红细胞计数≤０．００１ ;骨髓植活时间、血小板数、骨髓中粒细胞与巨核细胞在ＭＩｃ－ ＢＭＴ 与对照组间无明显差异。ＭＩｃ－ ＢＭＴ 后８ 周内输血量明显增多。结论　ＭＩｃ－ ＢＭＴ 后ＰＲＣＡ有显著的临床与实验室特点,其发生的主要机理可能为受者血型凝集素对供者红系前体细胞的抑制作用。