著者

志村 俊郎 寺本 明 吉田 大蔵 足立 好司

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.68, no.1, pp.74-77, 2001 (Released:2001-11-30)

参考文献数

5

被引用文献数

1 1

著者

Shunkichi Baba Akiko Fukumoto Mio Aoyagi Yasuo Koizumi Tetsuo Ikezono Toshiaki Yagi

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.71, no.1, pp.25-29, 2004 (Released:2004-03-01)

参考文献数

11

被引用文献数

10 10

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Objectives: To compare the usefulness of a CCD camera with infrared illumination (IR-CCD camera) over Frenzel glasses (F Glasses) for the observation of spontaneous nystagmus, the incidence and direction of nystagmus, and the frequency, amplitude and slow phase of spontaneous nystagmus. Methods: One hundred vertiginous patients, fifty-three females and forty-seven males participated in this study. Before undergoing routine neurotological examination, their eye movements were recorded by electronystagmogram (ENG) in conjunction with observations of eye movements under F glasses and through an IR-CCD camera. The data was collected from patients who exhibited spontaneous nystagmus either under F glasses or the IR-CCD camera. Results: Thirty-three patients showed spontaneous nystagmus under F glasses. On the other hand, under the IR-CCD camera, all patients examined exhibited spontaneous nystagmus. The frequency of nystagmus was not significantly different between these two systems. However, the amplitude and slow phase velocity exhibited significantly larger values under the IR-CCD camera in patients with spontaneous nystagmus both under the IR-CCD camera and F glasses. Conclusion: From these observations and evidence, the IR-CCD camera can be recommended as a more useful system and powerful tool for neurotological examination than F glasses.

著者

Shoko M. Yamada Eiichi Nakai Shinichi Toyonaga Hiromichi Nakabayashi Kae Chang Park Keiji Shimizu

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.72, no.5, pp.308-311, 2005 (Released:2005-10-25)

参考文献数

10

被引用文献数

15 15

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Nocardial brain abscesses are uncommon and are not preceded by clear infectious symptoms in most cases. Delayed identification of the bacteria is responsible for a high mortality rate. A 58-year-old afebrile woman was admitted to our hospital because of progressive right hemiparesis and aphasia. Magnetic resonance imaging (MRI) showed a single ring-enhanced lesion in the left frontal lobe. It was extremely difficult to establish the diagnosis of brain abscess, because the laboratory data provided little evidence of bacterial infection, 201TlCl-scintigraphy revealed definite accumulation of thallium in the lesion, and follow-up MRI demonstrated rapid enlargement of the lesion. Total resection was performed because of the possibility of a malignant brain tumor, but brain abscess was finally diagnosed with histological examination. A nocardial species was detected through microscopic examination of the pus obtained at surgery, and this precise diagnosis of nocardial brain abscess in the early stage enabled the administration of appropriate antibiotics and the patient's quick recovery. Nocardial brain abscesses are often misdiagnosed as malignant brain tumors, and a definitive diagnosis may not be possible without detecting bacteria from the lesion. Total excision of the abscess can produce good results when the abscess is large and located superficially, but incomplete aspiration and drainage of a lesion is associated with a high chance of relapse.

著者

Soichiro Ando

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

pp.JNMS.2022_89-102, (Released:2021-03-09)

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Background: The behavioral changes among Japanese, along with the coronavirus disease 2019 (COVID-19) epidemic, may affect the seasonal influenza epidemic in Japan and change the influenza vaccine effectiveness (VE).Methods: Influenza VE in children was estimated in the first influenza season (2019/20) overlapping with the COVID-19 epidemic by conducting a single-center, test-negative case-control (TNCC) study. Effects of prior influenza infection and vaccination in children were assessed for the 2019–2020 season.Results: Among 386 children, the adjusted VE was significant for influenza A/H1N1 (45.5%; 95% confidence interval (CI): 2.0–69.7) and influenza B (66.7%; 95% CI: 35.9–82.7). Among patients aged 0–6 years, the adjusted VE was significant for influenza A (total: A/H1N1+A/H3N2) (65.0%; 95% CI: 22.2–84.3), influenza A/H1N1 (64.8%; 95% CI: 16.9–85.1), and influenza B (87.4%; 95% CI: 50.5–96.8). No VE was observed in patients aged 7–15 years. Two vaccine doses tended to decrease the incidences of influenza A (total) and influenza A/H1N1 in patients aged 0–6 years. The adjusted odds ratios (ORs) of influenza B infection in patients, who had influenza during the previous season, were significantly low among all participants (0.29; 95% CI: 0.11–0.78) and patients aged 7–15 years (0.34; 95% CI: 0.12–0.94). The adjusted ORs of influenza infections were not significant in patients vaccinated during the previous season.Conclusions: TNCC-based estimates of influenza VE were consistent despite the overlapping COVID-19 epidemic.

著者

Yoshimasa Kanawaku

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

pp.JNMS.2022_89-119, (Released:2021-11-26)

被引用文献数

2

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In Japan, deaths in bathtubs or bathtub deaths are frequently investigated as unnatural deaths. About 19,000 bathtub deaths occur annually in Japan. This pattern of death has become a social issue in forensic pathology and emergency medicine and public health. It is assumed that the death of an adult by drowning in a bathtub cannot be avoided due to disturbance of consciousness. The PubMed database was used for literature search using the retrieval words, "bathing "OR" bathtub "AND" submersion "OR" drowning "OR" death "OR" cardiopulmonary arrest". From the epidemiological characteristics and pathophysiological findings of bath mortality in Japan, three etiologies of impaired consciousness have been proposed: acute ischemic heart failure, heatstroke, and blood pressure fluctuation. Moreover, other causes such as epilepsy and alcohol or drug intake cannot be ignored as potential risks for death in a bathtub. It is also important to note the possibility of suicide and, although extremely rare, homicide in a bathtub. Despite research, the exact causal relationship between bathtub bathing and death remains unclear. Further, the cause of death by postmortem investigation is not always easily determined. Hence, it is desirable to carry out a field survey of causes of death, including bathing conditions, and, wherever possible, a complete autopsy survey. An exclusion of critical cases such as crime-related death, suicide, drug poisoning, and carbon monoxide poisoning is optimal. Of the many hypotheses about the causes of bathtub mortality, the most consistent hypothesis will be medically inferred from the death history, case findings, and test results.

著者

及川 眞一

出版者

日本医科大学医学会

雑誌

日本医科大学雑誌 (ISSN:13454676)

巻号頁・発行日

vol.68, no.2, pp.194-197, 2001

被引用文献数

1

著者

工藤 翔二 慶長 直人

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.66, no.5, pp.336-339, 1999-10-15 (Released:2000-04-12)

参考文献数

12

被引用文献数

1

著者

Daijiro Morimoto Toyohiko Isu Kyongsong Kim Ryoji Matsumoto Masanori Isobe

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.78, no.4, pp.257-260, 2011 (Released:2011-08-26)

参考文献数

12

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A 25-year-old woman and a 31-year-old man presented with chronic lower back pain and unexplained lower abdominal pain. Both patients had groin tenderness at the medial border of the anterior superior iliac spine. The results of radiographical and physical examinations suggested sacroiliac joint dysfunction. Sacroiliac joint injection relieved their symptoms, including groin tenderness. In our experience, groin tenderness is highly specific for sacroiliac joint dysfunction. We speculate that spasm of the iliac muscle can cause groin pain and tenderness. Groin pain and a history of unexplained abdominal pain, with lower back pain, are symptoms that suggest sacroiliac joint dysfunction. Additionally, compression of the iliac muscle is a simple and useful maneuver; therefore, it can be used as a screening test for sacroiliac joint dysfunction, alongside other provocation tests.

著者

Yukie Yamamura Manabu Nonaka

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.86, no.2, pp.117-121, 2019-04-26 (Released:2019-05-24)

参考文献数

10

被引用文献数

1 2

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Sialorrhea is often treated with anticholinergic agents, but they can have undesirable side effects such as drowsiness, sedation, and constipation. Effective medication that acts selectively on the salivary glands is needed. We report the case of a patient with sialorrhea who was successfully treated by the combined use of pirenzepine and solifenacin (M1 and M3 muscarinic receptor antagonists, respectively). The patient was a 51-year-old man with mean unstimulated and stimulated salivary flow rates per 10 min of 6.1 mL and 41.7 mL, respectively (both were measured three times). 99mTcO4− salivary gland scintigraphy revealed characteristic spontaneous saliva secretion without stimulation. He was treated with Scopolia extract, escitalopram, solifenacin succinate, and the combined administration of solifenacin succinate and pirenzepine. A statistically significant decrease was observed from the pre-medication unstimulated and stimulated salivary flow rates only following the combined administration of solifenacin and pirenzepine. The major muscarinic receptor subtype expressed in the salivary glands is M3; however, M1 is also present. A study using knockout mice demonstrated that the presence of either M1 or M3 receptors was sufficient for salivation. Thus, the combined use of selective M1 and M3 antagonists could provide a good treatment option for sialorrhea.

著者

Kiyonori Furukawa Takashi Tajiri Hideyuki Suzuki Yoshihiro Norose

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.72, no.3, pp.149-154, 2005 (Released:2005-07-27)

参考文献数

7

被引用文献数

16 20

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Purpose: To examine whether sterile water and brushes are necessary for hand washing before surgery. Method: Twenty-two operating room nurses were randomly divided into two groups as follows: 11 nurses who used 7.5% povidone iodine (PVI group) and another 11 nurses who used 4% chlorhexidine gluconate (CHG group) to wash their hands using the rubbing method. All the nurses were examined for bacterial contamination of their hands before and after surgical hand rubbing. We used tap water to wash the hands at the sink used for washing surgical instruments in the operating room and non sterilized plastic brushes. Results: No bacteria were detected in the tap water. Before washing the hands, the number of bacteria detected was 5.0×103 cfu/H in the PVI group and 4.0×103 cfu/H in the CHG group, which were similar in both groups. After washing the hands, the median value of the bacteria decreased to 8.7×102 cfu/H in the PVI group and 0 cfu/H in the CHG group. Conclusions: Sterile water and brushes are not necessary for preoperative scrubbing up. When using tap water for surgical hand washing, 1) the hand-rubbing method should be used; 2) a quick-alcohol-based disinfectant scrub should be used; 3) the concentration of free chloride in the water should be maintained at over 0.1 PPM; 4) the bacterial contamination of the water should be checked; and 5) the faucet should be routinely cleaned and sterilized.

著者

Akiko Ishiwata Kazumi Kimura

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.83, no.2, pp.87-92, 2016-04-15 (Released:2016-05-16)

参考文献数

32

被引用文献数

1 2

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Posterior cortical atrophy (PCA) is a rare neurodegenerative disorder that has cerebral atrophy in the parietal, occipital, or occipitotemporal cortices and is characterized by visuospatial and visuoperceptual impairments. The most cases are pathologically compatible with Alzheimer's disease (AD). We describe a case of PCA in which a combination of imaging methods, in conjunction with symptoms and neurological and neuropsychological examinations, led to its being diagnosed and to AD being identified as its probable cause. Treatment with donepezil for 6 months mildly improved alexia symptoms, but other symptoms remained unchanged. A 59-year-old Japanese woman with progressive alexia, visual deficit, and mild memory loss was referred to our neurologic clinic for the evaluation of right homonymous hemianopsia. Our neurological examination showed alexia, constructional apraxia, mild disorientation, short-term memory loss, and right homonymous hemianopsia. These findings resulted in a score of 23 (of 30) points on the Mini-Mental State Examination. Occipital atrophy was identified, with magnetic resonance imaging (MRI) showing left-side dominance. The MRI data were quantified with voxel-based morphometry, and PCA was diagnosed on the basis of these findings. Single photon emission computed tomography with 123I-N-isopropyl-p-iodoamphetamine showed hypoperfusion in the corresponding voxel-based morphometry occipital lobes. Additionally, the finding of hypoperfusion in the posterior associate cortex, posterior cingulate gyrus, and precuneus was consistent with AD. Therefore, the PCA was considered to be a result of AD. We considered Lewy body dementia as a differential diagnosis because of the presence of hypoperfusion in the occipital lobes. However, the patient did not meet the criteria for Lewy body dementia during the course of the disease. We therefore consider including PCA in the differential diagnoses to be important for patients with visual deficit, cognitive impairment, and cerebral atrophy in the parietal, occipital, or occipitotemporal cortices. A combination of imaging methods, including MRI and single photon emission computed tomography, may help identify probable causes of PCA.

著者

叶 恵娟 勝又 聖夫 南 正康

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.67, no.5, pp.375-379, 2000 (Released:2001-11-15)

参考文献数

19

被引用文献数

2 2

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Mercury spilled from a mercurial sphygmomanometer on a hot carpet can vaporize and pollute the environment. We observed the vaporization of mercury in model experiments. Mercury (0.15g) was heated on a hot carpet and the near-by air was sampled with a midget impinger. The evaporated mercury levels were 5.0, 6.3, 8.1 and 10.0mg/m3 at 20, 40, 60 and 80 minutes, respectively at a height of 30cm from carpet. The result indicated that even if a small quantity of mercury remained on the hot carpet, it could evaporate and pollute the indoor air. Little is known about the influence on human health of low mercury exposure, especially on children. In order not to pollute the air, we need to pay attention to mercury.

著者

Yuri Kinoshita Hidehisa Saeki

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.83, no.6, pp.216-222, 2016-12-15 (Released:2017-01-27)

参考文献数

47

被引用文献数

18

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Toxic epidermal necrolysis (TEN) is a rare skin condition, most often drug-induced, known for its skin detachment and high mortality. In general, acute TEN is considered a T-cell mediated, type IV hypersensitivity disorder. It mostly results from a cumulative effect of risks from the drug structure, drug metabolism, HLA alleles and T cell clonotypes. However, the precise mechanism of TEN is still unknown. Apoptosis or necroptosis causes keratinocytes to lose their shape and adhesion, and necrosis predominates within a few days. Total epidermal necrosis separates the epidermis from the dermis. TEN is regarded as an immune reaction with predominantly CD8+ T lymphocytes, monocytes/macrophages, and natural killer cells. Impaired regulatory T-cells, T-helper 17 cells, cytotoxic granules such as perforin-granzyme and granulysin, tumor necrosis factor α, annexin, microRNA-18a-5p, and drug metabolites are all thought to be involved. From what is known, it can be assumed their mechanism is complex, and there is still much to be investigated. New findings will contribute to the identification of effective active methods of intervention.

著者

Koichi Yoneyama Atsuko Sekiguchi Takashi Matsushima Rieko Kawase Akihito Nakai Hirobumi Asakura Toshiyuki Takeshita

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.83, no.1, pp.6-14, 2016-01-15 (Released:2016-03-09)

参考文献数

19

被引用文献数

2

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Aim: The aim of the present study was to elucidate the clinical characteristics of pregnancy-associated maternal deaths. Methods: We performed a retrospective analysis with medical records and autopsy reports of cases of pregnancy-associated deaths. We collected information on all maternal deaths related to pregnancy that occurred in 3 hospitals affiliated with Nippon Medical School in Japan from January 1, 1984, to December 31, 2014. Data analyzed were maternal age, past medical history, parity, gestational age, clinical signs and symptoms, cause of death, and maternal autopsy findings. Results: A total of 26 maternal deaths occurred during the 31-year study period. Autopsies were performed for 16 patients (61.5%). The 26 deaths included 19 (73.1%) classified as direct maternal deaths and 7 (26.9%) classified as indirect maternal deaths. The mean maternal age at death was 33.1±4.3 years (range, 26-41 years). The highest percentage of women was aged 35 to 39 years (38.5%). Of the 26 maternal deaths, 69% occurred at 32 to 41 weeks of gestation. In cases of direct maternal death, the leading causes were amniotic fluid embolism (7 cases, 27.0% of all deaths) and hemorrhage (6 cases, 23.1% of all deaths). In cases of indirect obstetric deaths, the causes included cardiovascular disorders, cerebrovascular disorders, sepsis due to group A streptococcal infection, and hepatic failure of unknown etiology. Conclusions: Amniotic fluid embolism was the leading cause of maternal deaths and was followed by obstetric hemorrhage. To prevent and reduce the number of maternal deaths in Japan, further basic and clinical research on amniotic fluid embolism is required.

著者

大野 曜吉 山本 伊佐夫

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.69, no.4, pp.320-321, 2002 (Released:2002-08-23)

参考文献数

1

著者

Tomoko Shigemori Atsushi Sakai Toru Takumi Yasuhiko Itoh Hidenori Suzuki

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.82, no.2, pp.92-99, 2015-04-15 (Released:2015-05-08)

参考文献数

54

被引用文献数

1 14

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Background and Purpose: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic basis. Although anxiety is a common major psychiatric condition in ASD, the underlying mechanisms of the anxiety are poorly understood. In individuals with ASD, evidence indicates a structural abnormality in the amygdala, a key component involved in anxiety and social behavior. Microglia, which are central nervous system-resident immune cells implicated in neurodevelopmental processes, are also reportedly altered in ASD. In the present study, we examined the involvement of microglia in the anxiety-related behaviors of ASD model mouse. Methods: Mice that have a 6.3-Mb paternal duplication (patDp/+) corresponding to human chromosome 15q11-q13 were used as an ASD model. Iba1, a microglial activation marker, was examined in the amygdala using immunofluorescence. Effects of perinatal treatment with minocycline, a microglial modulator, on anxiety-related behaviors were examined in neonatal and adolescent patDp/+ mice. Results: In patDp/+ mice, Iba1 was decreased in the basolateral amygdala at postnatal day 7, but not at postnatal days 37-40. Perinatal treatment with minocycline restored the Iba1 expression and reduced anxiety-related behaviors in patDp/+ adolescent mice. Conclusions: Perinatal microglia in the basolateral amygdala may play a pathogenic role in the anxiety observed in a mouse model of ASD with duplication of human chromosome 15q11-q13.

著者

Ryo Yajima Yuya Ise Tetsuya Wako Shirou Katayama Junko Kizu

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.80, no.6, pp.481-485, 2013 (Released:2014-01-10)

参考文献数

11

被引用文献数

1

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Preventing infectious diseases in patients with cancer receiving palliative care is extremely important. However, little is known about the factors causing infection in these patients. The aim of this study was to clarify the factors contributing to infection in patients with cancer receiving palliative care. The medical records of each patient were reviewed, and patient characteristics were recorded. Factors that correlated significantly with infection, as revealed by univariate analysis, were performance status, the fall risk assessment score, and venous catheters. Our present study provides further evidence that the fall risk assessment score is a risk factor for infection. Critical infections might be prevented in patients with cancer receiving palliative care by monitoring the above 3 factors.

著者

Shoji Matsune

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.79, no.3, pp.170-175, 2012 (Released:2012-07-05)

参考文献数

28

被引用文献数

6 13

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Vascular endothelial growth factor (VEGF) was identified in 1980s as a protein that increases vascular permeability and induces endothelial cell-specific mitosis. VEGF plays an important role in angiogenesis during the embryonic stage and in angiogenesis and in increasing vascular permeability during postnatal life, both physiologically and pathologically. Great progress has been made in studies of VEGF, mainly in the field of oncology, and VEGF-targeted therapy has been successfully used to treat patients with cancer. In research related to chronic inflammation, several reports concerning rheumatoid arthritis or retinopathy and VEGF have been published. In the lower respiratory tract, increased levels of VEGF have been detected in biological samples from patients with asthma. However, VEGF has not been studied in detail in upper-airway diseases, such as rhinosinusitis. This review article focuses on VEGF and allergic rhinitis to advance studies of VEGF in chronic inflammation of the upper respiratory tract. VEGF levels in nasal secretions and nasal lavage fluid were higher in perennial allergic rhinitis than in nonallergic rhinosinusitis, after, rather than before, the antigen provocation test. The major VEGF isoforms were confirmed to be VEGF121 and VEGF165 in allergic rhinitis. Expression of VEGF mRNA was higher in serous versus mucous acini. In allergic rhinitis, serous acini produced significant quantities of VEGF, which was hypersecreted after antigen provocation. VEGF seems to play an important role in the pathophysiology of allergic rhinitis. Modulation of VEGF function seems to contribute to the successful treatment of conditions with airway inflammation such as allergic rhinitis.

著者

Tatsuya Suzuki Kenzo Oba Yoshimasa Igari Noriaki Matsumura Kentaro Watanabe Shoko Futami-Suda Hiroko Yasuoka Motoshi Ouchi Kazunari Suzuki Yoshiaki Kigawa Hiroshi Nakano

出版者

日本医科大学医学会

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.74, no.5, pp.338-343, 2007 (Released:2007-10-26)

参考文献数

20

被引用文献数

45 75

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Background: Colestimide has been reported to lower blood glucose levels in patients with type 2 diabetes complicated by hypercholesterolemia. Aim: To examine the mechanism by which colestimide decreases plasma glucose levels in the above patients. Methods: A total of 16 inpatients with type 2 diabetes complicated by hypercholesterolemia received colestimide for 1 week after their plasma glucose levels stabilized. We measured plasma glucose, serum immunoreactive insulin (IRI), serum lipid, plasma glucagon, and plasma glucagon-like peptide-1 (GLP-1) levels. These variables at baseline and 1 week of colestimide administration were compared. Results: Preprandial plasma glucose levels (baseline: 132 ± 33 mg/dL vs. completion: 118 ± 43 mg/dL, P=0.073) tended to decrease after colestimide administration, while 1-hr postprandial plasma glucose levels (baseline: 208 ± 49 mg/dL vs. completion: 166 ± 30 mg/dL, P<0.001) and 2-hr postprandial plasma glucose levels (baseline: 209 ± 56 mg/dL vs. completion: 178 ± 39 mg/dL, P=0.015) decreased significantly at 1 week of colestimide administration. The 2-hr postprandial plasma GLP-1 level was significantly (P=0.015) higher at 1 week of colestimide administration as compared with the baseline level, while there were no significant changes in preprandial and 1-hr postprandial plasma GLP-1 levels. Conclusions: The GLP-1-increasing activity of colestimide may explain, at least in part, the mechanism of its blood glucose-lowering activity in patients with type 2 diabetes complicated by hypercholesterolemia.

著者

Hiroki Yamaguchi

出版者

The Medical Association of Nippon Medical School

雑誌

Journal of Nippon Medical School (ISSN:13454676)

巻号頁・発行日

vol.74, no.3, pp.202-209, 2007 (Released:2007-07-12)

参考文献数

35

被引用文献数

10 17

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Dyskeratosis congenita (DKC) is a bone marrow failure (BMF) with characteristic physical anomalies, and is typically diagnosed in childhood. Some forms of DKC are known to be caused by mutations occurring in DKC1, telomerase RNA component (TERC), and telomerase reverse transcriptase (TERT). These genes are the main constituents of the telomerase complex that plays a role in replicating telomeres and stabilizing them against shortening. Mutations in these genes could shorten telomeres and impair the proliferative capacity of hematopoietic stem cells, eventually causing DKC. Recently, mutations in TERC and TERT have been reported in some cases of aplastic anemia (AA) and myelodysplastic syndrome (MDS). These cases are considered to be atypical forms of DKC that develop slowly in adulthood without characteristic physical anomalies. Genetic tests are essential in diagnosing this late-presenting DKC and determining the appropriate treatment. This article reviews mutations in the telomerase complex and their connections with DKC and bone marrow failures.